AutismKB 2.0

Evidence Details for PNMA6A


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Basic Information Top
Gene Symbol:PNMA6A ( MA6,MGC15827,PNMA6 )
Gene Full Name: paraneoplastic antigen like 6A
Band: Xq28
Quick LinksEntrez ID:84968; OMIM: NA; Uniprot ID:PNM6B_HUMAN; ENSEMBL ID: ENSG00000224201; HGNC ID: 28248
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PNMA6A|84968|nucleotide
ATGGCGGTGACCATGCTGCAGGACTGGTGCCGGTGGATGGGGGTCAACGCTCGCAGGGGCCTGCTCATCCTGGGCATCCCGGAGGACTGTGATGATGCCGAATTC
CAAGAGTCCCTCGAGGCTGCCCTGAGGCCTATGGGACACTTTACAGTGCTAGGCAAAGTGTTTCGAGAGGAGGATAATGCCACCGCGGCCCTGGTCGAGCTCGAC
CGGGAAGTCAACTATGCTTTGGTCCCCAGGGAAATCCCCGGCACTGGGGGCCCGTGGAACGTGGTCTTTGTGCCCCGTTGCTCAGGCGAGGAGTTTCTCGGTCTC
GGTCGCGTGTTCCACTTCCCGGAGCAAGAGGGGCAGATGGTGGAGAGCGTGGCCGGCGCCCTGGGTGTGGGGCTGCGCAGGGTGTGCTGGCTGCGATCCATCGGT
CAGGCGGTCCAGCCCTGGGTGGAGGCCGTGAGGTACCAGAGCCTGGGCGTGTTTTCCGGGAGGGACCAGCCAGCCCCAGGGGAGGAGTCCTTTGAGGTCTGGCTA
GACCACACCACCGAAATGCTGCATGTGTGGCAGGGGGTCTCGGAAAGGGAGAGGAGGAGGAGGCTGCTGGAAGGCTTGCGTGGGACCGCCCTGCAGCTCGTGCAC
GCGCTCCTGGCGGAGAACCCCGCCAGGACGGCGCAGGACTGTCTGGCGGCCCTGGCCCAGGTGTTTGGAGACAACGAGTCCCAGGCGACCATCCGGGTGAAGTGT
CTGACCGCTCAGCAGCAGTCAGGCGAGCGTCTCTCAGCTTTCGTGTTGCGGCTGGAAGTGCTGCTGCAGAAGGCCATGGAGAAGGAGGCCCTGGCCAGAGCATCC
GCCGACCGCGTGCGCCTGAGGCAGATGCTCACCAGGGCCCACCTTACTGAGCCTCTGGATGAAGCACTGAGGAAGCTGAGAATGGCCGGGAGGTCTCCAAGTTTC
TTGGAGATGCTGGGGCTCGTTCGGGAGTCTGAGGCATGGGAGGCCAGTCTAGCCAGGAGCGTGAGAGCCCAGACACAGGAAGGGGCCGGTGCCCGGGCTGGTGCC
CAGGCTGTTGCCAGAGCCAGCACTAAAGTAGAGGCGGTCCCAGGAGGTCCTGGTCGGGAGCCAGAGGGCCTCCGCCAGGCAGGAGGCCAGGAGGCTGAGGAGCTC
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>PNMA6A|84968|protein
MAVTMLQDWCRWMGVNARRGLLILGIPEDCDDAEFQESLEAALRPMGHFTVLGKVFREEDNATAALVELDREVNYALVPREIPGTGGPWNVVFVPRCSGEEFLGL
GRVFHFPEQEGQMVESVAGALGVGLRRVCWLRSIGQAVQPWVEAVRYQSLGVFSGRDQPAPGEESFEVWLDHTTEMLHVWQGVSERERRRRLLEGLRGTALQLVH
ALLAENPARTAQDCLAALAQVFGDNESQATIRVKCLTAQQQSGERLSAFVLRLEVLLQKAMEKEALARASADRVRLRQMLTRAHLTEPLDEALRKLRMAGRSPSF
LEMLGLVRESEAWEASLARSVRAQTQEGAGARAGAQAVARASTKVEAVPGGPGREPEGLRQAGGQEAEELLQEGLKPVLEECDN

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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