| geneid | 79669 |
|---|---|
| ensemblid | ENSG00000114529.13 |
| hgncid | 26255 |
| symbol | C3orf52 |
| name | chromosome 3 open reading frame 52 |
| refseq_nuc | NM_024616.3 |
| refseq_prot | NP_078892.3 |
| ensembl_nuc | ENST00000264848.10 |
| ensembl_prot | ENSP00000264848.5 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 112086389 |
| end | 112118210 |
| strand | + |
| ver | v1.2 |
| region | chr3:112086389-112118210 |
| region5000 | chr3:112081389-112123210 |
| regionname0 | C3orf52_chr3_112086389_112118210 |
| regionname5000 | C3orf52_chr3_112081389_112123210 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:112109576
|
G | A | 0.9731 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(214): Show | 362 | 372 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 4/6 | c.430G>A | p.Gly144Ser | 449/2237 | 430/654 | 144/217 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:112118102
|
C | T | 0.9839 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(363): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(215): Show | 366 | 372 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 6/6 | c.*1456C>T | 1456 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:112086591
|
G | GT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(276): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(156): Show | 279 | 372 | 0.7500 | 1 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1/5 | c.138+47dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:112088661
|
T | TTCTATCT others(1): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02895.hp2 HG02897.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0105a0001c0001t0002g0106a0001c0001t0002g0107others(4): Show | 8 | 372 | 0.0215 | 8 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1/5 | c.138+2134_138+2141dupCTATCTAT | INFO_REALIGN_3_PRIME | |||||
|
chr3:112088715
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(204): Show | 349 | 372 | 0.9382 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1/5 | c.138+2170T>C | ||||||
|
chr3:112089263
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0004a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(170): Show | 303 | 372 | 0.8145 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1/5 | c.138+2718C>T | ||||||
|
chr3:112089529
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0005a0007others(2): Show | a0001c0001a0001c0004a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(127): Show | 228 | 372 | 0.6129 | -1 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1/5 | c.138+3005delA | INFO_REALIGN_3_PRIME | |||||
|
chr3:112091821
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(204): Show | 349 | 372 | 0.9382 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1/5 | c.139-1539A>G | ||||||
|
chr3:112092014
|
GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(179): Show | 314 | 372 | 0.8441 | -1 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1/5 | c.139-1332delA | INFO_REALIGN_3_PRIME | |||||
|
chr3:112094001
|
AT | A | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01515.hp2 others(45): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0159a0001c0001t0002g0007a0001c0001t0002g0008others(33): Show | 48 | 372 | 0.1290 | -1 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 2/5 | c.268+523delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:112095449
|
C | G | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01515.hp2 others(45): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0017others(33): Show | 48 | 372 | 0.1290 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 2/5 | c.268+1960C>G | ||||||
|
chr3:112098952
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(202): Show | 347 | 372 | 0.9328 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 2/5 | c.269-3886A>G | ||||||
|
chr3:112098984
|
A | G | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01515.hp2 others(43): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0017others(31): Show | 46 | 372 | 0.1237 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 2/5 | c.269-3854A>G | ||||||
|
chr3:112099331
|
A | T | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01515.hp2 others(43): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0017others(31): Show | 46 | 372 | 0.1237 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 2/5 | c.269-3507A>T | ||||||
|
chr3:112101103
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0004a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(201): Show | 344 | 372 | 0.9247 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 2/5 | c.269-1735T>G | ||||||
|
chr3:112101583
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(202): Show | 347 | 372 | 0.9328 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 2/5 | c.269-1255T>C | ||||||
|
chr3:112101678
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(218): Show | 370 | 372 | 0.9946 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 2/5 | c.269-1160A>G | ||||||
|
chr3:112102129
|
C | T | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02027.hp2 others(39): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0017others(28): Show | 42 | 372 | 0.1129 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 2/5 | c.269-709C>T | ||||||
|
chr3:112103170
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(277): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(157): Show | 280 | 372 | 0.7527 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | c.396+205A>G | ||||||
|
chr3:112104242
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(202): Show | 347 | 372 | 0.9328 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | c.396+1277A>G | ||||||
|
chr3:112105225
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(151): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0011a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0067a0001c0001t0001g0118a0001c0001t0002g0002others(97): Show | 154 | 372 | 0.4140 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | c.396+2260T>C | ||||||
|
chr3:112105432
|
A | G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp1 others(86): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0118a0001c0001t0002g0002a0001c0001t0002g0007others(52): Show | 89 | 372 | 0.2393 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | c.396+2467A>G | ||||||
|
chr3:112105539
|
CGT | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp1 others(101): Show |
a0001a0002a0008 | a0001c0001a0001c0011a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0019a0001c0001t0001g0118a0001c0001t0001g0147others(59): Show | 104 | 372 | 0.2796 | -2 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | c.396+2605_396+2606delGT | INFO_REALIGN_3_PRIME | |||||
|
chr3:112106097
|
G | A | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01515.hp2 others(45): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0017others(33): Show | 48 | 372 | 0.1290 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | c.396+3132G>A | ||||||
|
chr3:112106264
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(204): Show | 349 | 372 | 0.9382 | -1 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | c.397-3269delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:112108381
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(214): Show | 362 | 372 | 0.9731 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | c.397-1162T>G | ||||||
|
chr3:112108933
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(214): Show | 362 | 372 | 0.9731 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | c.397-610T>C | ||||||
|
chr3:112109537
|
G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067a0001c0001t0001g0118a0001c0001t0002g0002others(98): Show | 157 | 372 | 0.4220 | 1 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | c.397-3dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:112109629
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(112): Show |
a0001a0008a0009 | a0001c0001a0001c0011a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0067a0001c0001t0001g0118a0001c0001t0002g0002others(68): Show | 115 | 372 | 0.3091 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 4/5 | c.467+16A>G | ||||||
|
chr3:112111615
|
A | G | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01515.hp2 others(42): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0017others(30): Show | 45 | 372 | 0.1210 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 4/5 | c.468-1349A>G | ||||||
|
chr3:112111808
|
A | AT | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01515.hp2 others(42): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0017others(30): Show | 45 | 372 | 0.1210 | 1 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 4/5 | c.468-1150dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:112113273
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0011a0001c0012others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0007others(100): Show | 157 | 372 | 0.4220 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 5/5 | c.649+128A>G | ||||||
|
chr3:112113730
|
A | G | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01515.hp2 others(42): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0017others(30): Show | 45 | 372 | 0.1210 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 5/5 | c.649+585A>G | ||||||
|
chr3:112114366
|
T | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp1 others(88): Show |
a0001a0002 | a0001c0001a0001c0011a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0008others(54): Show | 91 | 372 | 0.2446 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 5/5 | c.649+1221T>C | ||||||
|
chr3:112114404
|
T | TA | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp1 HG01884.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0167a0001c0001t0001g0191a0001c0001t0002g0007others(42): Show | 63 | 372 | 0.1694 | 1 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 5/5 | c.649+1277dupA | INFO_REALIGN_3_PRIME | |||||
|
chr3:112115906
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(118): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0011a0001c0012others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0007others(72): Show | 121 | 372 | 0.3253 | 0 | C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 5/5 | c.650-736G>A |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C3orf52 | 0/1 | a0001 | 217 | 317 | 59 | 60 | 137 | 15 | 45 | subcellular location copy fasta | chr3 | 112081389 | 112123210 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C3orf52 | 0/1 | c0001 | 654 | 310 | 58 | 60 | 133 | 15 | 43 | copy fasta | chr3 | 112081389 | 112123210 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C3orf52 | 0/1 | t0002 | 1584 | 156 | 62 | 26 | 44 | 8 | 15 | copy fasta | chr3 | 112081389 | 112123210 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| C3orf52 | 0/0 | g0107 | 1 | 0 | 0 | 0 | 0 | 1 | chr3 | 112081389 | 112123210 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C3orf52 | 0/1 | a0001c0001 | 310 | 58 | 60 | 133 | 15 | 43 | 654 | copy fasta | chr3 | 112081389 | 112123210 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C3orf52 | 0/1 | a0001c0001t0002 | 118 | 34 | 20 | 43 | 7 | 13 | 2237 | copy fasta | chr3 | 112081389 | 112123210 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| C3orf52 | 0/0 | a0001c0001t0002g0107 | 1 | 0 | 0 | 0 | 0 | 1 | chr3 | 112081389 | 112123210 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 112086545 | + | 1 | -0.9304 | -0.9304 | -0.9304 | 0.0000 | acceptor | a0001c0001t0002g0107 | HG03688.hp2 | HG03688.hp2 | C3orf52 | chr3 | 112081389 | 112123210 |
| 112093360 | + | 2 | 0.9932 | 0.9932 | 0.9932 | 0.0000 | donor | a0001c0001t0002g0107 | HG03688.hp2 | HG03688.hp2 | C3orf52 | chr3 | 112081389 | 112123210 |
| 112093489 | + | 2 | -0.9901 | -0.9901 | -0.9901 | 0.0000 | acceptor | a0001c0001t0002g0107 | HG03688.hp2 | HG03688.hp2 | C3orf52 | chr3 | 112081389 | 112123210 |
| 112102838 | + | 3 | 0.9972 | 0.9972 | 0.9972 | 0.0000 | donor | a0001c0001t0002g0107 | HG03688.hp2 | HG03688.hp2 | C3orf52 | chr3 | 112081389 | 112123210 |
| 112102965 | + | 3 | -0.9920 | -0.9920 | -0.9920 | 0.0000 | acceptor | a0001c0001t0002g0107 | HG03688.hp2 | HG03688.hp2 | C3orf52 | chr3 | 112081389 | 112123210 |
| 112109543 | + | 4 | 0.9916 | 0.9916 | 0.9916 | 0.0000 | donor | a0001c0001t0002g0107 | HG03688.hp2 | HG03688.hp2 | C3orf52 | chr3 | 112081389 | 112123210 |
| 112109613 | + | 4 | -0.9803 | -0.9802 | -0.9803 | 0.0000 | acceptor | a0001c0001t0002g0107 | HG03688.hp2 | HG03688.hp2 | C3orf52 | chr3 | 112081389 | 112123210 |
| 112112964 | + | 5 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0001c0001t0002g0107 | HG03688.hp2 | HG03688.hp2 | C3orf52 | chr3 | 112081389 | 112123210 |
| 112113145 | + | 5 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0001c0001t0002g0107 | HG03688.hp2 | HG03688.hp2 | C3orf52 | chr3 | 112081389 | 112123210 |
| 112116642 | + | 6 | 0.9802 | 0.9802 | 0.9802 | 0.0000 | donor | a0001c0001t0002g0107 | HG03688.hp2 | HG03688.hp2 | C3orf52 | chr3 | 112081389 | 112123210 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|