| geneid | 55331 |
|---|---|
| ensemblid | ENSG00000078124.13 |
| hgncid | 16066 |
| symbol | ACER3 |
| name | alkaline ceramidase 3 |
| refseq_nuc | NM_018367.7 |
| refseq_prot | NP_060837.3 |
| ensembl_nuc | ENST00000532485.6 |
| ensembl_prot | ENSP00000434480.1 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 76860918 |
| end | 77026797 |
| strand | + |
| ver | v1.2 |
| region | chr11:76860918-77026797 |
| region5000 | chr11:76855918-77031797 |
| regionname0 | ACER3_chr11_76860918_77026797 |
| regionname5000 | ACER3_chr11_76855918_77031797 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:76926607
|
G | A | 0.6185 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(211): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(97): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(211): Show | 214 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/11 | c.154G>A | p.Val52Ile | 213/7333 | 154/804 | 52/267 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:76926636
|
G | A | 0.5000 | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(170): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(69): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(170): Show | 173 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/11 | c.183G>A | p.Lys61Lys | 242/7333 | 183/804 | 61/267 | ||
|
chr11:76990562
|
G | A | 0.5434 | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(185): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(73): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(185): Show | 188 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 6/11 | c.426G>A | p.Pro142Pro | 485/7333 | 426/804 | 142/267 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:77021264
|
G | A | 0.6676 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(228): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(103): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(228): Show | 231 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*937G>A | 937 | |||||
|
chr11:77021905
|
T | C | 0.7312 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(250): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(115): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(250): Show | 253 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*1578T>C | 1578 | |||||
|
chr11:77021980
|
A | G | 0.5491 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(187): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(74): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(187): Show | 190 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*1653A>G | 1653 | |||||
|
chr11:77022803
|
C | T | 0.6734 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(104): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(230): Show | 233 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*2476C>T | 2476 | |||||
|
chr11:77022868
|
CAAAAAAA others(8): Show |
C | 0.6705 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(229): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(103): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(229): Show | 232 | 346 | -15 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*2551_*2565delAAAAAAAAAAAAAAA | 2551 | INFO_REALIGN_3_PRIME | ||||
|
chr11:77022961
|
C | T | 0.6734 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(104): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(230): Show | 233 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*2634C>T | 2634 | |||||
|
chr11:77023207
|
A | G | 0.6734 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(104): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(230): Show | 233 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*2880A>G | 2880 | |||||
|
chr11:77023285
|
A | G | 0.7312 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(250): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(115): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(250): Show | 253 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*2958A>G | 2958 | |||||
|
chr11:77023913
|
A | C | 0.6734 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(104): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(230): Show | 233 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*3586A>C | 3586 | |||||
|
chr11:77024073
|
CA | C | 0.3815 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(129): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(51): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0001c0001t0003g0023others(129): Show | 132 | 346 | -1 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*3774delA | 3774 | INFO_REALIGN_3_PRIME | ||||
|
chr11:77024719
|
T | A | 0.6734 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(104): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(230): Show | 233 | 346 | 0 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*4392T>A | 4392 | |||||
|
chr11:77025392
|
T | TTATATAT others(1): Show |
0.0751 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00735.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0001t0014a0001c0001t0028others(12): Show | a0001c0001t0013g0016a0001c0001t0013g0019a0001c0001t0013g0136others(23): Show | 26 | 346 | 8 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*5077_*5084dupATATATAT | 5085 | INFO_REALIGN_3_PRIME | ||||
|
chr11:77026255
|
CT | C | 0.7110 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(243): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(112): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(243): Show | 246 | 346 | -1 | ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | c.*5935delT | 5935 | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACER3 | 0/1 | a0001 | 267 | 214 | 61 | 40 | 86 | 11 | 15 | subcellular location copy fasta | chr11 | 76855918 | 77031797 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACER3 | 0/1 | c0001 | 804 | 170 | 19 | 38 | 86 | 11 | 15 | copy fasta | chr11 | 76855918 | 77031797 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACER3 | 0/0 | t0014 | 6521 | 5 | 0 | 4 | 0 | 1 | 0 | copy fasta | chr11 | 76855918 | 77031797 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACER3 | 0/1 | a0001c0001 | 170 | 19 | 38 | 86 | 11 | 15 | 804 | copy fasta | chr11 | 76855918 | 77031797 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACER3 | 0/0 | a0001c0001t0014 | 5 | 0 | 4 | 0 | 1 | 0 | 7324 | copy fasta | chr11 | 76855918 | 77031797 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 76861079 | + | 1 | -0.8960 | -0.8927 | -0.8838 | 0.0122 | acceptor | a0001c0001t0014 | HG01496.hp1 | HG00735.hp2 | ACER3 | chr11 | 76855918 | 77031797 |
| 76926557 | + | 2 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0001c0001t0014 | HG01496.hp1 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76926667 | + | 2 | -0.9983 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0001c0001t0014 | HG01496.hp1 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76958979 | + | 3 | 0.8209 | 0.8209 | 0.8209 | 0.0000 | donor | a0001c0001t0014 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76959031 | + | 3 | -0.9317 | -0.9317 | -0.9317 | 0.0000 | acceptor | a0001c0001t0014 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76976289 | + | 4 | 0.9950 | 0.9950 | 0.9949 | 0.0000 | donor | a0001c0001t0014 | HG00280.hp1 HG00735.hp2 HG00741.hp1 |
HG01255.hp2 HG01496.hp1 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76976341 | + | 4 | -0.9977 | -0.9977 | -0.9977 | 0.0000 | acceptor | a0001c0001t0014 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76985643 | + | 5 | 0.7822 | 0.7822 | 0.7822 | 0.0000 | donor | a0001c0001t0014 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76985724 | + | 5 | -0.8609 | -0.8609 | -0.8609 | 0.0000 | acceptor | a0001c0001t0014 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76990539 | + | 6 | 0.8651 | 0.8651 | 0.8651 | 0.0000 | donor | a0001c0001t0014 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76990574 | + | 6 | -0.9093 | -0.9093 | -0.9093 | 0.0000 | acceptor | a0001c0001t0014 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76998763 | + | 7 | 0.9385 | 0.9385 | 0.9385 | 0.0000 | donor | a0001c0001t0014 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
ACER3 | chr11 | 76855918 | 77031797 |
| 76998821 | + | 7 | -0.9011 | -0.9011 | -0.9011 | 0.0000 | acceptor | a0001c0001t0014 | HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
HG00280.hp1 HG00735.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp1 |
ACER3 | chr11 | 76855918 | 77031797 |
| 77015016 | + | 8 | 0.7267 | 0.7264 | 0.7254 | 0.0014 | donor | a0001c0001t0014 | HG00280.hp1 | HG00741.hp1 | ACER3 | chr11 | 76855918 | 77031797 |
| 77015117 | + | 8 | -0.7151 | -0.7138 | -0.7135 | 0.0017 | acceptor | a0001c0001t0014 | HG00741.hp1 | HG00280.hp1 | ACER3 | chr11 | 76855918 | 77031797 |
| 77016675 | + | 9 | 0.9814 | 0.9813 | 0.9772 | 0.0042 | donor | a0001c0001t0014 | HG00280.hp1 | HG00741.hp1 | ACER3 | chr11 | 76855918 | 77031797 |
| 77016779 | + | 9 | -0.9868 | -0.9868 | -0.9852 | 0.0016 | acceptor | a0001c0001t0014 | HG00735.hp2 HG01255.hp2 HG01496.hp1 |
HG00741.hp1 | ACER3 | chr11 | 76855918 | 77031797 |
| 77019731 | + | 10 | 0.8043 | 0.8043 | 0.7779 | 0.0263 | donor | a0001c0001t0014 | HG00735.hp2 HG01255.hp2 HG01496.hp1 |
HG00741.hp1 | ACER3 | chr11 | 76855918 | 77031797 |
| 77019776 | + | 10 | -0.8626 | -0.8570 | -0.8435 | 0.0191 | acceptor | a0001c0001t0014 | HG00280.hp1 | HG00741.hp1 | ACER3 | chr11 | 76855918 | 77031797 |
| 77020274 | + | 11 | 0.4279 | 0.4279 | 0.4231 | 0.0049 | donor | a0001c0001t0014 | HG00735.hp2 HG01255.hp2 HG01496.hp1 |
HG00280.hp1 | ACER3 | chr11 | 76855918 | 77031797 |
| 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 |
|---|