AutismKB 2.0

Evidence Details for POLM


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Basic Information Top
Gene Symbol:POLM ( FLJ35482,Pol Mu,Tdt-N )
Gene Full Name: polymerase (DNA directed), mu
Band: 7p13
Quick LinksEntrez ID:27434; OMIM: 606344; Uniprot ID:DPOLM_HUMAN; ENSEMBL ID: ENSG00000122678; HGNC ID: 9185
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLM|27434|nucleotide
ATGCTCCCCAAACGGCGGCGAGCGCGGGTCGGGTCCCCTAGCGGCGATGCCGCTTCCTCCACGCCGCCCTCGACGCGCTTCCCGGGAGTCGCCATCTACCTGGTC
GAGCCTCGCATGGGTCGCAGCCGCCGGGCCTTCCTCACAGGCCTGGCGCGCTCCAAAGGCTTCCGCGTCCTTGACGCCTGCAGCTCCGAAGCGACACATGTTGTG
ATGGAAGAGACCTCAGCAGAGGAGGCCGTCAGCTGGCAGGAGCGCAGGATGGCAGCTGCTCCCCCGGGTTGCACCCCCCCAGCTCTGCTGGACATAAGCTGGTTA
ACAGAGAGCCTGGGAGCTGGGCAGCCTGTACCTGTGGAGTGCCGGCACCGCCTGGAGGTGGCTGGGCCAAGGAAGGGGCCTCTGAGCCCAGCATGGATGCCTGCC
TATGCCTGCCAGCGCCCTACGCCCCTCACACACCACAACACTGGCCTCTCCGAGGCTCTGGAGATACTGGCCGAGGCAGCAGGCTTTGAAGGCAGTGAGGGCCGC
CTCCTCACCTTCTGCAGAGCAGCCTCGGTGCTCAAGGCCCTTCCCAGCCCTGTCACAACCCTGAGCCAGCTGCAGGGGCTTCCCCACTTTGGAGAACACTCCTCT
AGGGTTGTCCAGGAGCTGCTGGAGCATGGAGTGTGTGAGGAGGTGGAGAGAGTTCGGCGCTCAGAGAGGTACCAGACCATGAAGCTCTTCACCCAGATCTTCGGG
GTCGGTGTGAAGACTGCTGACCGGTGGTACCGGGAAGGACTGCGAACCTTAGATGACCTCCGAGAGCAGCCCCAGAAACTAACCCAACAGCAGAAAGCGGGGCTC
CAGCACCACCAGGACCTGAGCACCCCAGTCCTGCGGTCCGATGTAGATGCCCTGCAGCAGGTGGTGGAGGAAGCTGTGGGGCAGGCCCTGCCTGGGGCCACCGTC
ACGCTGACCGGCGGCTTCCGCAGGGGGAAGTTGCAGGGCCATGACGTGGACTTCCTCATCACCCACCCCAAGGAGGGTCAGGAGGCGGGGCTGCTGCCTAGAGTG
ATGTGCCGCCTGCAGGACCAGGGCCTCATCCTGTACCACCAGCACCAGCACAGCTGCTGTGAGTCCCCTACCCGCCTGGCCCAACAGAGCCACATGGACGCTTTT
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>POLM|27434|protein
MLPKRRRARVGSPSGDAASSTPPSTRFPGVAIYLVEPRMGRSRRAFLTGLARSKGFRVLDACSSEATHVVMEETSAEEAVSWQERRMAAAPPGCTPPALLDISWL
TESLGAGQPVPVECRHRLEVAGPRKGPLSPAWMPAYACQRPTPLTHHNTGLSEALEILAEAAGFEGSEGRLLTFCRAASVLKALPSPVTTLSQLQGLPHFGEHSS
RVVQELLEHGVCEEVERVRRSERYQTMKLFTQIFGVGVKTADRWYREGLRTLDDLREQPQKLTQQQKAGLQHHQDLSTPVLRSDVDALQQVVEEAVGQALPGATV
TLTGGFRRGKLQGHDVDFLITHPKEGQEAGLLPRVMCRLQDQGLILYHQHQHSCCESPTRLAQQSHMDAFERSFCIFRLPQPPGAAVGGSTRPCPSWKAVRVDLV
VAPVSQFPFALLGWTGSKLFQRELRRFSRKEKGLWLNSHGLFDPEQKTFFQAASEEDIFRHLGLEYLPPEQRNA
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top