AutismKB 2.0

Evidence Details for ABCB6


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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 LinksEntrez 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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>ABCB6|10058|protein
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