AutismKB 2.0

Evidence Details for PNMA3


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Basic Information Top
Gene Symbol:PNMA3 ( MA3,MA5,MGC132756,MGC132758 )
Gene Full Name: paraneoplastic antigen MA3
Band: Xq28
Quick LinksEntrez ID:29944; OMIM: 300675; Uniprot ID:PNMA3_HUMAN; ENSEMBL ID: ENSG00000183837; HGNC ID: 18742
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PNMA3|29944|nucleotide
ATGCCGTTGACCTTGTTACAGGACTGGTGTCGGGGGGAACACCTGAACACCCGGAGGTGCATGCTCATCCTGGGGATCCCCGAGGACTGTGGCGAGGATGAGTTT
GAGGAGACACTCCAGGAGGCTTGCAGGCACCTGGGCAGATACAGGGTGATTGGCAGGATGTTTAGGAGGGAGGAGAACGCCCAGGCGATTCTACTGGAGCTGGCA
CAAGATATCGACTATGCTTTGCTCCCAAGGGAAATACCAGGAAAGGGGGGGCCCTGGGAAGTGATTGTAAAACCCCGTAACTCAGATGGGGAATTTCTCAACAGA
CTGAACCGCTTCTTAGAGGAGGAGAGGCGGACCGTGTCAGATATGAACCGAGTCCTCGGGTCGGACACCAATTGTTCGGCTCCAAGAGTGACTATATCACCAGAG
TTCTGGACCTGGGCCCAGACTCTGGGGGCAGCAGTGCAGCCTCTGCTAGAACAAATGTTGTACCGAGAACTAAGAGTGTTTTCTGGGAACACCATATCCATCCCA
GGTGCACTGGCCTTTGATGCCTGGCTTGAGCACACCACTGAGATGCTACAGATGTGGCAGGTGCCCGAGGGGGAAAAGAGGCGGAGGCTGATGGAATGCTTACGG
GGCCCTGCTCTCCAGGTGGTCAGTGGGCTCCGGGCCAGCAATGCTTCCATAACTGTGGAGGAGTGCCTGGCTGCCTTGCAGCAGGTGTTCGGACCTGTGGAGAGC
CATAAAATTGCCCAGGTGAAGTTGTGTAAAGCCTATCAGGAGGCAGGAGAGAAAGTATCTAGCTTTGTGTTACGTTTGGAACCCCTGCTCCAAAGAGCTGTAGAA
AACAATGTGGTATCACGTAGAAACGTGAATCAGACTCGCCTGAAACGAGTCTTAAGTGGGGCCACCCTTCCTGACAAACTCCGAGATAAGCTTAAGCTGATGAAA
CAGCGAAGGAAGCCTCCTGGTTTCCTGGCCCTGGTGAAGCTCCTGCGTGAGGAGGAGGAATGGGAGGCCACTTTAGGTCCAGATAGGGAGAGTCTGGAGGGGCTG
GAAGTAGCCCCAAGGCCACCTGCCAGGATCACTGGGGTTGGGGCAGTACCTCTCCCTGCCTCTGGCAACAGTTTTGATGTGAGGCCTTCCCAGGGCTACCGGCGC
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>PNMA3|29944|protein
MPLTLLQDWCRGEHLNTRRCMLILGIPEDCGEDEFEETLQEACRHLGRYRVIGRMFRREENAQAILLELAQDIDYALLPREIPGKGGPWEVIVKPRNSDGEFLNR
LNRFLEEERRTVSDMNRVLGSDTNCSAPRVTISPEFWTWAQTLGAAVQPLLEQMLYRELRVFSGNTISIPGALAFDAWLEHTTEMLQMWQVPEGEKRRRLMECLR
GPALQVVSGLRASNASITVEECLAALQQVFGPVESHKIAQVKLCKAYQEAGEKVSSFVLRLEPLLQRAVENNVVSRRNVNQTRLKRVLSGATLPDKLRDKLKLMK
QRRKPPGFLALVKLLREEEEWEATLGPDRESLEGLEVAPRPPARITGVGAVPLPASGNSFDVRPSQGYRRRRGRGQHRRGGVARAGSRGSRKRKRHTFCYSCGED
GHIRVQCINPSNLLLVKQKKQAAVESGNGNWAWDKSHPKSKAK
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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Linkage Studies Top