AutismKB 2.0

Evidence Details for POLA2


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Basic Information Top
Gene Symbol:POLA2 ( FLJ21662,FLJ37250 )
Gene Full Name: polymerase (DNA directed), alpha 2 (70kD subunit)
Band: 11q13.1
Quick LinksEntrez ID:23649; OMIM: NA; Uniprot ID:DPOA2_HUMAN; ENSEMBL ID: ENSG00000014138; HGNC ID: 30073
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLA2|23649|nucleotide
ATGTCCGCATCCGCCCAGCAGCTGGCGGAGGAGCTGCAGATCTTCGGCCTAGACTGCGAGGAGGCTCTAATTGAGAAATTGGTAGAGCTTTGTGTTCAGTATGGA
CAGAATGAGGAGGGAATGGTAGGCGAGCTTATAGCCTTCTGCACCAGCACACATAAAGTTGGCCTTACCTCAGAGATCCTGAACTCTTTTGAGCATGAGTTTCTG
AGCAAAAGATTATCGAAAGCCAGGCATAGTACCTGCAAGGACAGTGGCCATGCAGGAGCTAGAGACATTGTTTCCATTCAAGAGCTAATTGAAGTGGAAGAAGAA
GAGGAAATCCTCTTGAACTCTTACACCACACCTTCAAAGGGTTCTCAGAAGCGAGCTATCTCTACCCCAGAAACCCCCCTAACAAAAAGGAGTGTGTCAACTCGT
AGCCCCCATCAGCTACTCTCACCGTCAAGTTTCTCTCCAAGTGCTACTCCCTCCCAGAAATACAACTCACGAAGTAACCGAGGAGAAGTGGTTACCTCCTTCGGC
TTAGCACAGGGAGTATCTTGGTCTGGGAGAGGAGGAGCTGGAAACATCAGCCTGAAGGTCTTGGGATGTCCAGAGGCACTAACTGGGAGCTACAAATCCATGTTT
CAGAAGCTCCCAGACATTCGAGAAGTTCTGACCTGTAAGATAGAAGAACTTGGCAGCGAACTCAAGGAACATTACAAGATTGAAGCTTTCACTCCTTTGCTAGCC
CCAGCACAGGAGCCTGTCACTCTGCTGGGCCAGATTGGCTGTGATAGCAACGGGAAGCTGAACAACAAGTCAGTGATTCTCGAGGGAGACCGGGAACATTCCTCG
GGTGCTCAAATTCCAGTGGATTTATCTGAGCTTAAGGAATATTCTCTGTTTCCTGGACAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTT
GCCACCAAACTCTACGAGGGTGTGCCACTTCCATTTTATCAGCCCACTGAAGAGGATGCAGACTTTGAGCAAAGCATGGTCCTGGTTGCCTGTGGACCATACACC
ACATCTGACAGCATCACGTATGACCCCCTGCTTGACCTGATTGCTGTCATCAACCATGACCGGCCAGATGTCTGCATCCTGTTTGGCCCTTTCCTGGATGCTAAG
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>POLA2|23649|protein
MSASAQQLAEELQIFGLDCEEALIEKLVELCVQYGQNEEGMVGELIAFCTSTHKVGLTSEILNSFEHEFLSKRLSKARHSTCKDSGHAGARDIVSIQELIEVEEE
EEILLNSYTTPSKGSQKRAISTPETPLTKRSVSTRSPHQLLSPSSFSPSATPSQKYNSRSNRGEVVTSFGLAQGVSWSGRGGAGNISLKVLGCPEALTGSYKSMF
QKLPDIREVLTCKIEELGSELKEHYKIEAFTPLLAPAQEPVTLLGQIGCDSNGKLNNKSVILEGDREHSSGAQIPVDLSELKEYSLFPGQVVIMEGINTTGRKLV
ATKLYEGVPLPFYQPTEEDADFEQSMVLVACGPYTTSDSITYDPLLDLIAVINHDRPDVCILFGPFLDAKHEQVENCLLTSPFEDIFKQCLRTIIEGTRSSGSHL
VFVPSLRDVHHEPVYPQPPFSYSDLSREDKKQVQFVSEPCSLSINGVIFGLTSTDLLFHLGAEEISSSSGTSDRFSRILKHILTQRSYYPLYPPQEDMAIDYESF
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top