AutismKB 2.0

Evidence Details for JMY


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Basic Information Top
Gene Symbol:JMY ( FLJ37870,MGC163496,WHDC1L3 )
Gene Full Name: junction mediating and regulatory protein, p53 cofactor
Band: 5q14.1
Quick LinksEntrez ID:133746; OMIM: 604279; Uniprot ID:JMY_HUMAN; ENSEMBL ID: ENSG00000152409; HGNC ID: 28916
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>JMY|133746|nucleotide
ATGTCGTTCGCGCTGGAGGAGACGCTCGAGTCGGACTGGGTGGCTGTGCGGCCCCATGTGTTCGACGAGCGCGAGAAACACAAATTCGTCTTTATTGTGGCCTGG
AACGAGATTGAGGGCAAGTTTGCCATAACCTGCCACAACCGGACGGCCCAGAGGCAGAGGAGCGGCTCCCGGGAGCAAGCGGGGGCGCGAGGGGGCGCCGAGGCC
GGCGGAGCTGCGTCCGACGGGAGCCGCGGGCCCGGCAGCCCGGCGGGCAGGGGTCGGCCCGAGGCCACTGCCTCTGCAACTCTGGTTAGGAGCCCCGGGCCCCGG
CGGAGCTCGGCCTGGGCGGAGGGCGGCTCTCCTCGGAGCACTCGCAGCCTTCTGGGGGACCCGCGGCTGCGGAGTCCTGGCAGCAAAGGGGCGGAGAGTCGTCTT
AGGAGCCCAGTGCGGGCCAAACCCATCCCGGGTCAGAAAACATCTGAAGCCGACGATGCGGCGGGGGCAGCCGCTGCAGCAGCCCGGCCGGCGCCCAGAGAGGCC
CAGGTGTCCTCTGTACGGATAGTGAGCGCCTCTGGGACGGTCTCCGAGGAGATAGAGGTGCTGGAAATGGTGAAGGAGGACGAGGCACCTCTGGCGCTCTCGGAC
GCGGAGCAGCCGCCGCCCGCCACCGAGCTGGAGTCTCCGGCCGAAGAGTGCAGCTGGGCCGGACTGTTTTCTTTCCAGGACCTGCGCGCCGTGCACCAGCAGCTG
TGCTCGGTGAACTCGCAGTTGGAGCCGTGCCTGCCGGTGTTCCCCGAGGAACCTTCGGGCATGTGGACTGTGCTGTTTGGGGGCGCCCCCGAGATGACCGAGCAG
GAAATCGACACTCTGTGTTACCAGCTCCAGGTCTACCTGGGCCACGGCCTGGACACCTGCGGCTGGAAGATCCTCTCCCAGGTGCTCTTCACCGAGACCGATGAT
CCCGAGGAGTATTACGAAAGCCTCAGCGAGCTGCGGCAGAAGGGCTACGAAGAAGTGCTTCAGCGGGCCAGGAAGCGCATCCAGGAGCTCTTGGATAAGCACAAG
AATACAGAGAGCATGGTGGAGCTTCTGGACTTGTATCAGATGGAGGATGAAGCCTACAGCAGCCTTGCAGAAGCTACAACCGAACTCTATCAGTATTTACTACAG
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>JMY|133746|protein
MSFALEETLESDWVAVRPHVFDEREKHKFVFIVAWNEIEGKFAITCHNRTAQRQRSGSREQAGARGGAEAGGAASDGSRGPGSPAGRGRPEATASATLVRSPGPR
RSSAWAEGGSPRSTRSLLGDPRLRSPGSKGAESRLRSPVRAKPIPGQKTSEADDAAGAAAAAARPAPREAQVSSVRIVSASGTVSEEIEVLEMVKEDEAPLALSD
AEQPPPATELESPAEECSWAGLFSFQDLRAVHQQLCSVNSQLEPCLPVFPEEPSGMWTVLFGGAPEMTEQEIDTLCYQLQVYLGHGLDTCGWKILSQVLFTETDD
PEEYYESLSELRQKGYEEVLQRARKRIQELLDKHKNTESMVELLDLYQMEDEAYSSLAEATTELYQYLLQPFRDMRELAMLRRQQIKISMENDYLGPRRIESLQK
EDADWQRKAHMAVLSIQDLTVKYFEITAKAQKAVYDRMRADQKKFGKASWAAAAERMEKLQYAVSKETLQMMRAKEICLEQRKHALKEEMQSLRGGTEAIARLDQ
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top