AutismKB 2.0

Evidence Details for ABCC8


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Basic Information Top
Gene Symbol:ABCC8 ( ABC36,HHF1,HI,HRINS,MRP8,PHHI,SUR,SUR1,TNDM2 )
Gene Full Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Band: 11p15.1
Quick LinksEntrez ID:6833; OMIM: 600509; Uniprot ID:ABCC8_HUMAN; ENSEMBL ID: ENSG00000006071; HGNC ID: 59
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ABCC8|6833|nucleotide
ATGCCCCTGGCCTTCTGCGGCAGCGAGAACCACTCGGCCGCCTACCGGGTGGACCAGGGGGTCCTCAACAACGGCTGCTTTGTGGACGCGCTCAACGTGGTGCCG
CACGTCTTCCTACTCTTCATCACCTTCCCCATCCTCTTCATTGGATGGGGAAGTCAGAGCTCCAAGGTGCACATCCACCACAGCACATGGCTTCATTTCCCTGGG
CACAACCTGCGGTGGATCCTGACCTTCATGCTGCTCTTCGTCCTGGTGTGTGAGATTGCAGAGGGCATCCTGTCTGATGGGGTGACCGAATCCCACCATCTGCAC
CTGTACATGCCAGCCGGGATGGCGTTCATGGCTGCTGTCACCTCCGTGGTCTACTATCACAACATCGAGACTTCCAACTTCCCCAAGCTGCTAATTGCCCTGCTG
GTGTATTGGACCCTGGCCTTCATCACCAAGACCATCAAGTTTGTCAAGTTCTTGGACCACGCCATCGGCTTCTCGCAGCTACGCTTCTGCCTCACAGGGCTGCTG
GTGATCCTCTATGGGATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGGTGAGGAGATACATCTTCTTCAAGACACCGAGGGAGGTGAAGCCTCCCGAGGACCTG
CAAGACCTGGGGGTACGCTTCCTGCAGCCCTTCGTGAATCTGCTGTCCAAAGGCACCTACTGGTGGATGAACGCCTTCATCAAGACTGCCCACAAGAAGCCCATC
GACTTGCGAGCCATCGGGAAGCTGCCCATCGCCATGAGGGCCCTCACCAACTACCAACGGCTCTGCGAGGCCTTTGACGCCCAGGTGCGGAAGGACATTCAGGGC
ACTCAAGGTGCCCGGGCCATCTGGCAGGCACTCAGCCATGCCTTCGGGAGGCGCCTGGTCCTCAGCAGCACTTTCCGCATCTTGGCCGACCTGCTGGGCTTCGCC
GGGCCACTGTGCATCTTTGGGATCGTGGACCACCTTGGGAAGGAGAACGACGTCTTCCAGCCCAAGACACAATTTCTCGGGGTTTACTTTGTCTCATCCCAAGAG
TTCCTTGCCAATGCCTACGTCTTAGCTGTGCTTCTGTTCCTTGCCCTCCTACTGCAAAGGACATTTCTGCAAGCATCCTACTATGTGGCCATTGAAACTGGAATT
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>ABCC8|6833|protein
MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHIHHSTWLHFPGHNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLH
LYMPAGMAFMAAVTSVVYYHNIETSNFPKLLIALLVYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYGMLLLVEVNVIRVRRYIFFKTPREVKPPEDL
QDLGVRFLQPFVNLLSKGTYWWMNAFIKTAHKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGTQGARAIWQALSHAFGRRLVLSSTFRILADLLGFA
GPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQEFLANAYVLAVLLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNL
VAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATKLSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETT
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top