AutismKB 2.0

Evidence Details for C1orf173


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Basic Information Top
Gene Symbol:C1orf173 ( DKFZp547I048,DKFZp761G1720,DKFZp781L0319,MGC90412,RP11-653A5.1 )
Gene Full Name: chromosome 1 open reading frame 173
Band: 1p31.1
Quick LinksEntrez ID:127254; OMIM: NA; Uniprot ID:CA173_HUMAN; ENSEMBL ID: ENSG00000178965; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C1orf173|127254|nucleotide
ATGAGCCATTCTCACCCCGCTGGGTTACTTGCTGCATATAATAGCCTTATGGATAAACACCTGGCTGGGTATTTTAACAATACAAGGATAAGGCGTCATCTCTTA
AGATCAGGACTGATCACAAGAAGTGGAAGAATACTTTCTGAAAAAGAATATAAACTAAATATGATGAAGCGGGATCATCAAAAATATATCCGGGAATGCTTAGCC
CAGGCAATTTTTCATAAAGTTCTTGATATGGAGCGTTACCATCAGCTTGAAATAAAAAAGAAATTGGAGACCTTAGCTAGGAAGGAGCGAATCCAGAGGTTTAAG
GGAGAGCACACAAGAAGGTCTGTTGAAAATAACATGCCAATCCTGTCTCCCCACCCACCAGTTGGCCCAAAGAGTAATCGTGGCCATAGTGTTCTGGTTGATGAA
GGACATTCCAGTCCGTTAGCACTGACAGCCCCTCGACCATATACTGCTCCAGGAAATATGCAGCCTCCAATTCGATTACAGCCTCTTCCCAGTAATCCTGCAGTA
GAAACTGTTCCAAAGGTAACTTCAAGGTCCAGATCAAAAACCTCATTGCTGGAAAATGAAGCTCTGTTTCCCATTGGGGGCAAGAAGGCAGTGATGAAGTTCAGG
AACTCCATAGGCAATTCACAGAGAATGAATTCATATCAACTTCCAAACATTAACAGTTACATGATGCCTATTCCTCCTCCACTTCCCCCAACTGGGAAAATCACA
AGAGAAAATAGATCTGAAACATGGAGAAGGAGAAGATTTCGTCCAACCACTGCTCCAAATGGCTTAGAACCTCTTTTGACAAAGGATTCAAGAAGGATTCATAAA
ACATCCTTACATAGTAATGCAGCTATTACAATGATCTATTTGGGGAAAAATGTGCACCTATCTTCTGATAATCCTGACTTCCGGGATGAAATTAAAGTTTATCAG
CAGCACTGTGGTGGGGAAAACCTTTGTGTCTACAAAGGCAAACTACTTGAAAAAGAGACCTTTCAGTTTATTTCCAAAAGGCATCATGGTTTCCCCTTCAGTCTC
ACCTTTTTCCTGAATGGGATGCAGGTGAACAGGTTAAGCTCCTGTTGTGAATACAAGCATCGGAAAGGTTCCAGGCTTGGAGGCAAACGAGGCTACTTTGGGTTT
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>C1orf173|127254|protein
MSHSHPAGLLAAYNSLMDKHLAGYFNNTRIRRHLLRSGLITRSGRILSEKEYKLNMMKRDHQKYIRECLAQAIFHKVLDMERYHQLEIKKKLETLARKERIQRFK
GEHTRRSVENNMPILSPHPPVGPKSNRGHSVLVDEGHSSPLALTAPRPYTAPGNMQPPIRLQPLPSNPAVETVPKVTSRSRSKTSLLENEALFPIGGKKAVMKFR
NSIGNSQRMNSYQLPNINSYMMPIPPPLPPTGKITRENRSETWRRRRFRPTTAPNGLEPLLTKDSRRIHKTSLHSNAAITMIYLGKNVHLSSDNPDFRDEIKVYQ
QHCGGENLCVYKGKLLEKETFQFISKRHHGFPFSLTFFLNGMQVNRLSSCCEYKHRKGSRLGGKRGYFGFVCVERSSPCYKCIIAMGLDKKPSLPKSRKEKSTEK
GEELKKAEGKVRKEREYVIPKRNEIKENKTSVSAKFSAQEIKTGLKEVVTAVEEMTSKGKPGQEVLEDDQENTLKYEYEEDFEVDEEKQGEKSNEEGQADVQMNG
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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 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top