AutismKB 2.0

Evidence Details for POLG


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Basic Information Top
Gene Symbol:POLG ( FLJ27114,MDP1,PEO,POLG1,POLGA,SANDO,SCAE )
Gene Full Name: polymerase (DNA directed), gamma
Band: 15q26.1
Quick LinksEntrez ID:5428; OMIM: 174763; Uniprot ID:DPOG1_HUMAN; ENSEMBL ID: ENSG00000140521; HGNC ID: 9179
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLG|5428|nucleotide
ATGAGCCGCCTGCTCTGGAGGAAGGTGGCCGGCGCCACCGTCGGGCCAGGGCCGGTTCCAGCTCCGGGGCGCTGGGTCTCCAGCTCCGTCCCCGCGTCCGACCCC
AGCGACGGGCAGCGGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCCTCAGCAGCCGCAAGTGCTATCCTCGGAGGGCGGGCAGCTGCGG
CACAACCCATTGGACATCCAGATGCTCTCGAGAGGGCTGCACGAGCAAATCTTCGGGCAAGGAGGGGAGATGCCTGGCGAGGCCGCGGTGCGCCGCAGCGTCGAG
CACCTGCAGAAGCACGGGCTCTGGGGGCAGCCAGCCGTGCCCTTGCCCGACGTGGAGCTGCGCCTGCCGCCCCTCTACGGGGACAACCTGGACCAGCACTTCCGC
CTCCTGGCCCAGAAGCAGAGCCTGCCCTACCTGGAGGCGGCCAACTTGCTGTTGCAGGCCCAGCTGCCCCCGAAGCCCCCGGCTTGGGCCTGGGCGGAGGGCTGG
ACCCGGTACGGCCCCGAGGGGGAGGCCGTACCCGTGGCCATCCCCGAGGAGCGGGCCCTGGTGTTCGACGTGGAGGTCTGCTTGGCAGAGGGAACTTGCCCCACA
TTGGCGGTGGCCATATCCCCCTCGGCCTGGTATTCCTGGTGCAGCCAGCGGCTGGTGGAAGAGCGTTACTCTTGGACCAGCCAGCTGTCGCCGGCTGACCTCATC
CCCCTGGAGGTCCCTACTGGTGCCAGCAGCCCCACCCAGAGAGACTGGCAGGAGCAGTTAGTGGTGGGGCACAATGTTTCCTTTGACCGAGCTCATATCAGGGAG
CAGTACCTGATCCAGGGTTCCCGCATGCGTTTCCTGGACACCATGAGCATGCACATGGCCATCTCAGGGCTAAGCAGCTTCCAGCGCAGTCTGTGGATAGCAGCC
AAGCAGGGCAAACACAAGGTCCAGCCCCCCACAAAGCAAGGCCAGAAGTCCCAGAGGAAAGCCAGAAGAGGCCCAGCGATCTCATCCTGGGACTGGCTGGACATC
AGCAGTGTCAACAGTCTGGCAGAGGTGCACAGACTTTATGTAGGGGGGCCTCCCTTAGAGAAGGAGCCTCGAGAACTGTTTGTGAAGGGCACCATGAAGGACATT
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>POLG|5428|protein
MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVE
HLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPT
LAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAA
KQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPH
PVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPM
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (4)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top