Evidence Details for ABCB6
Basic Information Top
Gene Symbol: | ABCB6 ( ABC,ABC14,EST45597,FLJ22414,MTABC3,PRP,umat ) |
---|---|
Gene Full Name: | ATP-binding cassette, sub-family B (MDR/TAP), member 6 |
Band: | 2q35 |
Quick Links | Entrez ID:10058; OMIM: 605452; Uniprot ID:ABCB6_HUMAN; ENSEMBL ID: ENSG00000115657,ENSG00000198925; HGNC ID: 47 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ABCB6|10058|nucleotide
ATGGTGACTGTGGGCAACTACTGCGAGGCCGAAGGGCCCGTGGGTCCGGCCTGGATGCAGGATGGCCTGAGTCCCTGCTTCTTCTTCACGCTCGTGCCCTCGACG
CGGATGGCTCTGGGGACTCTGGCCTTGGTGCTGGCTCTTCCCTGCAGACGCCGGGAGCGGCCCGCTGGTGCTGATTCGCTGTCTTGGGGGGCCGGCCCTCGCATC
TCTCCCTACGTGCTGCAGCTGCTTCTGGCCACACTTCAGGCGGCGCTGCCCCTGGCCGGCCTGGCTGGCCGGGTGGGCACTGCCCGGGGGGCCCCACTGCCAAGC
TATCTACTTCTGGCCTCCGTGCTGGAGAGTCTGGCCGGCGCCTGTGGCCTGTGGCTGCTTGTCGTGGAGCGGAGCCAGGCACGGCAGCGTCTGGCAATGGGCATC
TGGATCAAGTTCAGGCACAGCCCTGGTCTCCTGCTCCTCTGGACTGTGGCGTTTGCAGCTGAGAACTTGGCCCTGGTGTCTTGGAACAGCCCACAGTGGTGGTGG
GCAAGGGCAGACTTGGGCCAGCAGGTTCAGTTTAGCCTGTGGGTGCTGCGGTATGTGGTCTCTGGAGGGCTGTTTGTCCTGGGTCTCTGGGCCCCTGGACTTCGT
CCCCAGTCCTATACATTGCAGGTTCATGAAGAGGACCAAGATGTGGAAAGGAGCCAGGTTCGGTCAGCAGCCCAACAGTCTACCTGGCGAGATTTTGGCAGGAAG
CTCCGCCTCCTGAGTGGCTACCTGTGGCCTCGAGGGAGTCCAGCTCTGCAGCTGGTGGTGCTCATCTGCCTGGGGCTCATGGGTTTGGAACGGGCACTCAATGTG
TTGGTGCCTATATTCTATAGGAACATTGTGAACTTGCTGACTGAGAAGGCACCTTGGAACTCTCTGGCCTGGACTGTTACCAGTTACGTCTTCCTCAAGTTCCTC
CAGGGGGGTGGCACTGGCAGTACAGGCTTCGTGAGCAACCTGCGCACCTTCCTGTGGATCCGGGTGCAGCAGTTCACGTCTCGGCGGGTGGAGCTGCTCATCTTC
TCCCACCTGCACGAGCTCTCACTGCGCTGGCACCTGGGGCGCCGCACAGGGGAGGTGCTGCGGATCGCGGATCGGGGCACATCCAGTGTCACAGGGCTGCTCAGC
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ATGGTGACTGTGGGCAACTACTGCGAGGCCGAAGGGCCCGTGGGTCCGGCCTGGATGCAGGATGGCCTGAGTCCCTGCTTCTTCTTCACGCTCGTGCCCTCGACG
CGGATGGCTCTGGGGACTCTGGCCTTGGTGCTGGCTCTTCCCTGCAGACGCCGGGAGCGGCCCGCTGGTGCTGATTCGCTGTCTTGGGGGGCCGGCCCTCGCATC
TCTCCCTACGTGCTGCAGCTGCTTCTGGCCACACTTCAGGCGGCGCTGCCCCTGGCCGGCCTGGCTGGCCGGGTGGGCACTGCCCGGGGGGCCCCACTGCCAAGC
TATCTACTTCTGGCCTCCGTGCTGGAGAGTCTGGCCGGCGCCTGTGGCCTGTGGCTGCTTGTCGTGGAGCGGAGCCAGGCACGGCAGCGTCTGGCAATGGGCATC
TGGATCAAGTTCAGGCACAGCCCTGGTCTCCTGCTCCTCTGGACTGTGGCGTTTGCAGCTGAGAACTTGGCCCTGGTGTCTTGGAACAGCCCACAGTGGTGGTGG
GCAAGGGCAGACTTGGGCCAGCAGGTTCAGTTTAGCCTGTGGGTGCTGCGGTATGTGGTCTCTGGAGGGCTGTTTGTCCTGGGTCTCTGGGCCCCTGGACTTCGT
CCCCAGTCCTATACATTGCAGGTTCATGAAGAGGACCAAGATGTGGAAAGGAGCCAGGTTCGGTCAGCAGCCCAACAGTCTACCTGGCGAGATTTTGGCAGGAAG
CTCCGCCTCCTGAGTGGCTACCTGTGGCCTCGAGGGAGTCCAGCTCTGCAGCTGGTGGTGCTCATCTGCCTGGGGCTCATGGGTTTGGAACGGGCACTCAATGTG
TTGGTGCCTATATTCTATAGGAACATTGTGAACTTGCTGACTGAGAAGGCACCTTGGAACTCTCTGGCCTGGACTGTTACCAGTTACGTCTTCCTCAAGTTCCTC
CAGGGGGGTGGCACTGGCAGTACAGGCTTCGTGAGCAACCTGCGCACCTTCCTGTGGATCCGGGTGCAGCAGTTCACGTCTCGGCGGGTGGAGCTGCTCATCTTC
TCCCACCTGCACGAGCTCTCACTGCGCTGGCACCTGGGGCGCCGCACAGGGGAGGTGCTGCGGATCGCGGATCGGGGCACATCCAGTGTCACAGGGCTGCTCAGC
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>ABCB6|10058|protein
MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLALVLALPCRRRERPAGADSLSWGAGPRISPYVLQLLLATLQAALPLAGLAGRVGTARGAPLPS
YLLLASVLESLAGACGLWLLVVERSQARQRLAMGIWIKFRHSPGLLLLWTVAFAAENLALVSWNSPQWWWARADLGQQVQFSLWVLRYVVSGGLFVLGLWAPGLR
PQSYTLQVHEEDQDVERSQVRSAAQQSTWRDFGRKLRLLSGYLWPRGSPALQLVVLICLGLMGLERALNVLVPIFYRNIVNLLTEKAPWNSLAWTVTSYVFLKFL
QGGGTGSTGFVSNLRTFLWIRVQQFTSRRVELLIFSHLHELSLRWHLGRRTGEVLRIADRGTSSVTGLLSYLVFNVIPTLADIIIGIIYFSMFFNAWFGLIVFLC
MSLYLTLTIVVTEWRTKFRRAMNTQENATRARAVDSLLNFETVKYYNAESYEVERYREAIIKYQGLEWKSSASLVLLNQTQNLVIGLGLLAGSLLCAYFVTEQKL
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MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLALVLALPCRRRERPAGADSLSWGAGPRISPYVLQLLLATLQAALPLAGLAGRVGTARGAPLPS
YLLLASVLESLAGACGLWLLVVERSQARQRLAMGIWIKFRHSPGLLLLWTVAFAAENLALVSWNSPQWWWARADLGQQVQFSLWVLRYVVSGGLFVLGLWAPGLR
PQSYTLQVHEEDQDVERSQVRSAAQQSTWRDFGRKLRLLSGYLWPRGSPALQLVVLICLGLMGLERALNVLVPIFYRNIVNLLTEKAPWNSLAWTVTSYVFLKFL
QGGGTGSTGFVSNLRTFLWIRVQQFTSRRVELLIFSHLHELSLRWHLGRRTGEVLRIADRGTSSVTGLLSYLVFNVIPTLADIIIGIIYFSMFFNAWFGLIVFLC
MSLYLTLTIVVTEWRTKFRRAMNTQENATRARAVDSLLNFETVKYYNAESYEVERYREAIIKYQGLEWKSSASLVLLNQTQNLVIGLGLLAGSLLCAYFVTEQKL
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Evidence summary Top
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Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
---|---|---|---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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