AutismKB 2.0

Evidence Details for C6orf170


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Basic Information Top
Gene Symbol:C6orf170 ( BROMI,C6orf171,FLJ30899,FLJ34235,bA301B7.2,bA57L9.1,dJ310J6.1 )
Gene Full Name: chromosome 6 open reading frame 170
Band: 6q22.31
Quick LinksEntrez ID:221322; OMIM: NA; Uniprot ID:BROMI_HUMAN; ENSEMBL ID: ENSG00000146350; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C6orf170|221322|nucleotide
ATGGCCCATTTCTCCAGCGAGGACCAGGCGATGCTGCAGGCGATGCTGAGGCGGTTGTTCCAGAGCGTGAAGGAGAAAATCACGGGTGCCCCTTCCCTGGAGTGT
GCCGAAGAGATTCTTTTACATCTGGAGGAAACTGATGAAAATTTTCACAACTATGAATTTGTGAAATACCTCAGGCAGCATATAGGCAACACTTTGGGTTCTATG
ATTGAAGAAGAAATGGAAAAATGCACATCTGATCGGAATCAGGGTGAAGAATGCGGCTATGATACAGTTGTACAGCAGGTCACTAAAAGAACTCAAGAATCTAAA
GAGTACAAAGAAATGATGCATTACCTGAAGAACATTATGATAGCTGTGGTCGAGTCTATGATTAACAAGTTTGAAGAAGATGAGACACGAAATCAAGAAAGGCAG
AAAAAAATCCAAAAGGAGAAAAGCCATAGTTACCGCACAGACAATTGCTCTGATAGTGATTCATCATTGAATCAGAGTTACAAATTTTGTCAAGGAAAATTACAA
TTGATTTTAGACCAGTTGGATCCTGGGCAACCTAAAGAGGTGAGATATGAAGCCTTGCAAACATTATGTTCAGCTCCTCCATCTGATGTCCTCAACTGTGAAAAT
TGGACTACTCTCTGCGAAAAACTGACCGTGTCTCTTTCAGATCCTGATCCTGTGTTTAGTGACCGGATTTTAAAATTCTGTGCACAGACATTTTTGCTTTCTCCA
TTACATATGACCAAGGAAATTTATACAAGCTTAGCTAAGTATTTGGAGTCATACTTTCTTTCTAGGGAAAATCATATTCCTACTCTTTCAGCTGGTGTAGATATA
ACTAATCCTAATATGACTCGCTTACTTAAAAAGGTTCGTCTTCTAAATGAATATCAGAAAGAAGCTCCATCTTTCTGGATTCGTCATCCAGAGAAGTATATGGAA
GAAATTGTGGAGAGTACTTTGTCCTTGTTAACAGTTAAACATAATCAAAGCCATGTTGTCTCACAAAAGATTTTGGATCCGATCTACTTTTTTGCATTAGTTGAT
ACCAAGGCTGTGTGGTTCAAAAAGTGGATGCATGCACATTATAGCAGAACTACAGTATTAAGACTTCTTGAAACGAAATATAAGTCTCTGGTAACTACAGCCATT
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>C6orf170|221322|protein
MAHFSSEDQAMLQAMLRRLFQSVKEKITGAPSLECAEEILLHLEETDENFHNYEFVKYLRQHIGNTLGSMIEEEMEKCTSDRNQGEECGYDTVVQQVTKRTQESK
EYKEMMHYLKNIMIAVVESMINKFEEDETRNQERQKKIQKEKSHSYRTDNCSDSDSSLNQSYKFCQGKLQLILDQLDPGQPKEVRYEALQTLCSAPPSDVLNCEN
WTTLCEKLTVSLSDPDPVFSDRILKFCAQTFLLSPLHMTKEIYTSLAKYLESYFLSRENHIPTLSAGVDITNPNMTRLLKKVRLLNEYQKEAPSFWIRHPEKYME
EIVESTLSLLTVKHNQSHVVSQKILDPIYFFALVDTKAVWFKKWMHAHYSRTTVLRLLETKYKSLVTTAIQQCVQYFEMCKTRKADETLGHSKHCRNKQKTFYYL
GQELQYIYFIHSLCLLGRLLIYKQGRKLFPIKLKNKKGLVSLIDLLVLFTQLIYYSPSCPKMTSAAHSENYSPASMVTEVLWILSDQKECAVECLYNNIVIETLL
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Vi?as-Jornet M, 2014 Spain aCGHautism - - - - 3 - 3
Linkage Studies Top