| geneid | 29974 |
|---|---|
| ensemblid | ENSG00000148584.16 |
| hgncid | 24086 |
| symbol | A1CF |
| name | APOBEC1 complementation factor |
| refseq_nuc | NM_014576.4 |
| refseq_prot | NP_055391.2 |
| ensembl_nuc | ENST00000373997.8 |
| ensembl_prot | ENSP00000363109.3 |
| mane_status | MANE Select |
| chr | chr10 |
| start | 50799409 |
| end | 50885627 |
| strand | - |
| ver | v1.2 |
| region | chr10:50799409-50885627 |
| region5000 | chr10:50794409-50890627 |
| regionname0 | A1CF_chr10_50799409_50885627 |
| regionname5000 | A1CF_chr10_50794409_50890627 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50800083
|
T | G | 0.8491 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(241): Show | 287 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*6646A>C | 6646 | |||||
|
chr10:50800699
|
G | A | 0.9970 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(283): Show | 337 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*6030C>T | 6030 | |||||
|
chr10:50800797
|
G | A | 0.8491 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(241): Show | 287 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*5932C>T | 5932 | |||||
|
chr10:50802069
|
C | A | 0.8491 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(241): Show | 287 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*4660G>T | 4660 | |||||
|
chr10:50804022
|
G | A | 0.0118 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0026a0001c0001t0009g0158a0001c0001t0009g0159 | 4 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*2707C>T | 2707 | |||||
|
chr10:50806119
|
G | C | 0.0148 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0043 | a0001c0001t0009g0026a0001c0001t0009g0158a0001c0001t0009g0159others(1): Show | 5 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*610C>G | 610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 1/1 | a0001 | 586 | 325 | 77 | 49 | 145 | 12 | 40 | subcellular location copy fasta | chr10 | 50794409 | 50890627 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 1/1 | c0001 | 1761 | 259 | 56 | 45 | 110 | 11 | 35 | copy fasta | chr10 | 50794409 | 50890627 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | t0009 | 7461 | 4 | 4 | 0 | 0 | 0 | 0 | copy fasta | chr10 | 50794409 | 50890627 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 1/1 | a0001c0001 | 259 | 56 | 45 | 110 | 11 | 35 | 1761 | copy fasta | chr10 | 50794409 | 50890627 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | a0001c0001t0009 | 4 | 4 | 0 | 0 | 0 | 0 | 9221 | copy fasta | chr10 | 50794409 | 50890627 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 50864033 | - | 2 | -0.2350 | -0.2350 | -0.2350 | 0.0000 | acceptor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50864080 | - | 2 | 0.4103 | 0.4103 | 0.4103 | 0.0000 | donor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50859842 | - | 3 | -0.7527 | -0.7527 | -0.7527 | 0.0000 | acceptor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50859985 | - | 3 | 0.7475 | 0.7475 | 0.7475 | 0.0000 | donor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50843988 | - | 4 | -0.9976 | -0.9976 | -0.9976 | 0.0000 | acceptor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50844122 | - | 4 | 0.9876 | 0.9876 | 0.9876 | 0.0000 | donor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50841862 | - | 5 | -0.9953 | -0.9953 | -0.9953 | 0.0000 | acceptor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50841992 | - | 5 | 0.9926 | 0.9926 | 0.9926 | 0.0000 | donor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50836074 | - | 6 | -0.9605 | -0.9604 | -0.9603 | 0.0002 | acceptor | a0001c0001t0009 | HG01884.hp2 NA19043.hp1 |
HG02572.hp1 HG02630.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50836312 | - | 6 | 0.9186 | 0.9186 | 0.9186 | 0.0000 | donor | a0001c0001t0009 | HG02572.hp1 HG02630.hp1 |
HG01884.hp2 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50828131 | - | 7 | -0.9957 | -0.9957 | -0.9957 | 0.0000 | acceptor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50828295 | - | 7 | 0.9731 | 0.9731 | 0.9731 | 0.0000 | donor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50820552 | - | 8 | -0.9947 | -0.9947 | -0.9947 | 0.0000 | acceptor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50820649 | - | 8 | 0.9928 | 0.9928 | 0.9928 | 0.0000 | donor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50816006 | - | 9 | -0.7553 | -0.7507 | -0.7507 | 0.0046 | acceptor | a0001c0001t0009 | HG01884.hp2 | HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50816279 | - | 9 | 0.8273 | 0.8241 | 0.8241 | 0.0031 | donor | a0001c0001t0009 | HG01884.hp2 | HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50813857 | - | 10 | -0.7810 | -0.7737 | -0.7737 | 0.0073 | acceptor | a0001c0001t0009 | HG01884.hp2 | HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50814038 | - | 10 | 0.6442 | 0.6258 | 0.6258 | 0.0185 | donor | a0001c0001t0009 | HG01884.hp2 | HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50811040 | - | 11 | -0.9096 | -0.9070 | -0.9070 | 0.0026 | acceptor | a0001c0001t0009 | HG01884.hp2 | HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50811176 | - | 11 | 0.8040 | 0.8027 | 0.8028 | 0.0012 | donor | a0001c0001t0009 | HG01884.hp2 | HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50809894 | - | 12 | -0.9805 | -0.9805 | -0.9805 | 0.0000 | acceptor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50810042 | - | 12 | 0.9807 | 0.9807 | 0.9807 | 0.0000 | donor | a0001c0001t0009 | HG01884.hp2 | HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 50806880 | - | 13 | 0.9093 | 0.9093 | 0.9093 | 0.0000 | donor | a0001c0001t0009 | HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
HG01884.hp2 HG02572.hp1 HG02630.hp1 NA19043.hp1 |
A1CF | chr10 | 50794409 | 50890627 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50808856
|
c.1609+1038A>G | Urate levels in lean individuals0.08 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0007a0001c0001t0009others(40): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0021others(239): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 others(282): Show |
Modulation of genetic associations with serum urat others(38): Show |
up to 5,529 European ancestry male individuals, up others(47): Show |
ASAH2B, A1CF | ASAH2B, A1CF | rs4256922-C | - | MODIFIER | chr10 | T | C |
|
chr10:50890011
|
c.-4524G>A | Narcolepsy with cataplexy1.8 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0009a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0009others(12): Show | a0001c0001t0001g0134a0001c0001t0002g0126a0001c0001t0003g0033a0001c0001t0003g0061a0001c0001t0003g0128others(52): Show | HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01123.hp2 others(63): Show |
A polymorphism in CCR1/CCR3 is associated with nar others(8): Show |
409 Japanese ancestry cases, 1,562 Japanese ancest others(71): Show |
A1CF | A1CF - MIX23P2 | rs4290173-C | - | MODIFIER | chr10 | C | T |
|
chr10:50879173
|
c.-94+6408A>C | Cognitive function0.58 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0007others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(234): Show | HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(276): Show |
Genome-wide association study of population-standa others(75): Show |
2,211 Sub-Saharan African ancestry individuals/ | A1CF | rs6479768-G | - | MODIFIER | chr10 | T | G | |
|
chr10:50889433
|
c.-3946A>G | Colorectal cancer0.173862 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0007others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0021others(184): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 others(221): Show |
New role of fat-free mass in cancer risk linked wi others(26): Show |
4,988 European ancestry cases, 310,272 European an others(16): Show |
A1CF - MIX23P2 | rs10761587-C | - | MODIFIER | chr10 | T | C | |
|
chr10:50883318
|
c.-94+2263T>C | Glucose levels0.0136 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0007others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(217): Show | HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 others(256): Show |
A cross-population atlas of genetic associations f others(24): Show |
314,916 European ancestry individuals, 133,336 Eas others(29): Show |
A1CF | rs7075575-G | - | MODIFIER | chr10 | A | G |