AutismKB 2.0

Evidence Details for C22orf23


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Basic Information Top
Gene Symbol:C22orf23 ( EVG1,FLJ32787,dJ1039K5.6 )
Gene Full Name: chromosome 22 open reading frame 23
Band: 22q13.1
Quick LinksEntrez ID:84645; OMIM: NA; Uniprot ID:EVG1_HUMAN; ENSEMBL ID: ENSG00000128346; HGNC ID: 18589
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C22orf23|84645|nucleotide
ATGGCTTCACAGAAGCAGATGGAGGTAGTGACCAAAGGAACTGGGTTCCGGCGCCGCCCCAAGACCATCACTTACACCCCGGGGACCTGCGAGCTGTTCAGAGTG
ATGATGAAGGAATCCAAACTGACGAACATCCAGCAGCGCCACATCATGGACATCATGAAAAGAGGAGATGCTTTGCCCCTACAGTGCAGCCCAACATCCAGCCAG
AGAGTCTTACCTTCCAAGCAAATAGCCTCGCCCATCTACCTGCCTCCCATCCTCGCAGCCCGTCCCCACCTCCGGCCTGCCAACATGTGTCAAGCCAATGGGGCC
TACAGCCGGGAGCAGTTCAAGCCTCAAGCCACCAGGGATTTGGAGAAGGAGAAACAAAGACTCCAAAATATCTTTGCCACGGGGAAGGACATGGAGGAACGGAAA
AGAAAGGCCCCTCCTGCACGACAGAAGGCTCCAGCCCCTGAGCTAGACCGATTTGAAGAGCTGGTGAAGGAAATCCAGGAGAGGAAAGAATTCCTGGCTGACATG
GAGGCCCTGGGACAGGGCAAACAGTACCGAGGAATCATCCTTGCTGAAATCTCCCAGAAACTCCGGGAAATGGAAGACATTGACCACAGAAGGAGTGAGGAACTT
AGGAAGGGTCTTGCCACCACTTAA




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>C22orf23|84645|protein
MASQKQMEVVTKGTGFRRRPKTITYTPGTCELFRVMMKESKLTNIQQRHIMDIMKRGDALPLQCSPTSSQRVLPSKQIASPIYLPPILAARPHLRPANMCQANGA
YSREQFKPQATRDLEKEKQRLQNIFATGKDMEERKRKAPPARQKAPAPELDRFEELVKEIQERKEFLADMEALGQGKQYRGIILAEISQKLREMEDIDHRRSEEL
RKGLATT


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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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top