AutismKB 2.0

Evidence Details for GJA10


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Basic Information Top
Gene Symbol:GJA10 ( CX62,RP11-63K6.6 )
Gene Full Name: gap junction protein, alpha 10, 62kDa
Band: 6q15
Quick LinksEntrez ID:84694; OMIM: 611924; Uniprot ID:CXA10_HUMAN; ENSEMBL ID: ENSG00000135355; HGNC ID: 16995
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GJA10|84694|nucleotide
ATGGGGGACTGGAACTTATTGGGTGGCATCCTAGAGGAAGTTCACTCCCACTCAACCATAGTGGGGAAAATCTGGCTGACCATCCTCTTCATCTTCCGAATGCTG
GTACTTCGTGTGGCTGCTGAGGATGTCTGGGATGATGAACAGTCAGCATTTGCCTGCAACACCCGGCAGCCAGGTTGCAACAATATCTGTTATGATGATGCATTC
CCTATCTCTTTGATCAGGTTCTGGGTTTTACAGATCATCTTTGTGTCTTCTCCTTCTTTGGTCTATATGGGCCATGCACTTTATAGGCTCAGGGCCTTTGAGAAA
GACAGGCAGAGGAAAAAGTCACACCTTAGAGCCCAGATGGAGAATCCAGATCTTGACTTGGAGGAGCAGCAAAGAATAGATAGGGAACTGAGGAGGTTAGAGGAG
CAGAAGAGGATCCATAAAGTCCCTCTGAAAGGATGTCTGCTGCGTACTTATGTCTTACACATCTTGACCAGATCTGTGCTGGAAGTAGGATTCATGATAGGCCAA
TATATTCTCTATGGGTTTCAAATGCACCCCCTTTACAAATGCACTCAACCTCCTTGCCCCAATGCGGTGGATTGCTTTGTATCCAGGCCCACTGAGAAGACAATT
TTCATGCTTTTTATGCACAGCATTGCAGCCATTTCCTTGTTACTCAATATACTGGAAATATTTCATCTAGGCATCAGAAAAATTATGAGGACACTTTATAAGAAA
TCCAGCAGTGAGGGCATTGAGGATGAAACAGGCCCTCCATTCCATTTGAAGAAATATTCTGTGGCCCAGCAGTGTATGATTTGCTCTTCATTGCCTGAAAGAATC
TCTCCACTTCAAGCTAACAATCAACAGCAAGTCATTCGAGTTAATGTGCCAAAGTCTAAAACCATGTGGCAAATCCCACAGCCAAGGCAACTTGAAGTAGACCCT
TCCAATGGGAAAAAGGACTGGTCTGAGAAGGATCAGCATAGCGGACAGCTCCATGTTCACAGCCCGTGTCCCTGGGCTGGCAGTGCTGGAAATCAGCACCTGGGA
CAGCAATCAGACCATTCCTCATTTGGCCTGCAGAATACAATGTCTCAGTCCTGGCTAGGTACAACTACGGCTCCTAGAAACTGTCCATCCTTTGCAGTAGGAACC
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>GJA10|84694|protein
MGDWNLLGGILEEVHSHSTIVGKIWLTILFIFRMLVLRVAAEDVWDDEQSAFACNTRQPGCNNICYDDAFPISLIRFWVLQIIFVSSPSLVYMGHALYRLRAFEK
DRQRKKSHLRAQMENPDLDLEEQQRIDRELRRLEEQKRIHKVPLKGCLLRTYVLHILTRSVLEVGFMIGQYILYGFQMHPLYKCTQPPCPNAVDCFVSRPTEKTI
FMLFMHSIAAISLLLNILEIFHLGIRKIMRTLYKKSSSEGIEDETGPPFHLKKYSVAQQCMICSSLPERISPLQANNQQQVIRVNVPKSKTMWQIPQPRQLEVDP
SNGKKDWSEKDQHSGQLHVHSPCPWAGSAGNQHLGQQSDHSSFGLQNTMSQSWLGTTTAPRNCPSFAVGTWEQSQDPEPSGEPLTDLHSHCRDSEGSMRESGVWI
DRSRPGSRKASFLSRLLSEKRHLHSDSGSSGSRNSSCLDFPHWENSPSPLPSVTGHRTSMVRQAALPIMELSQELFHSGCFLFPFFLPGVCMYVCVDREADGGGD
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top