AutismKB 2.0

Evidence Details for POLA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:POLA1 ( DKFZp686K1672,POLA,p180 )
Gene Full Name: polymerase (DNA directed), alpha 1, catalytic subunit
Band: Xp22.11-p21.3
Quick LinksEntrez ID:5422; OMIM: 312040; Uniprot ID:DPOLA_HUMAN; ENSEMBL ID: ENSG00000101868; HGNC ID: 9173
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLA1|5422|nucleotide
ATGGCACCTGTGCACGGCGACGACTCTCTGTCAGATTCAGGGAGTTTTGTATCTTCTCGAGCCCGGCGAGAAAAAAAATCAAAGAAGGGGCGCCAAGAAGCCCTA
GAAAGACTGAAAAAGGCTAAAGCTGGTGAGAAGTATAAATATGAAGTCGAGGACTTCACAGGTGTTTATGAAGAAGTTGATGAAGAACAGTATTCGAAGCTGGTT
CAGGCACGCCAGGATGATGACTGGATTGTGGATGATGATGGTATTGGCTATGTGGAAGATGGCCGAGAGATTTTTGATGATGACCTTGAAGATGATGCCCTTGAT
GCTGATGAGAAAGGAAAAGATGGTAAAGCACGCAATAAAGACAAGAGGAATGTAAAGAAGCTCGCAGTGACAAAACCGAACAACATTAAGTCAATGTTCATTGCT
TGTGCTGGAAAGAAAACTGCAGATAAAGCTGTAGACTTGTCCAAGGATGGTCTGCTAGGTGACATTCTACAGGATCTTAACACTGAGACACCTCAAATAACTCCA
CCACCTGTAATGATACTGAAGAAGAAAAGATCCATTGGAGCTTCACCGAATCCTTTCTCTGTGCACACCGCCACGGCAGTTCCTTCAGGAAAAATTGCTTCCCCT
GTCTCCAGAAAGGAGCCTCCATTAACTCCTGTTCCTCTTAAACGTGCTGAATTTGCTGGCGATGATGTACAGGTCGAGAGTACAGAAGAAGAGCAGGAGTCAGGG
GCAATGGAGTTTGAAGATGGTGACTTTGATGAGCCCATGGAAGTTGAAGAGGTGGACCTGGAGCCTATGGCTGCCAAGGCTTGGGACAAAGAGAGTGAGCCAGCA
GAGGAAGTGAAACAAGAGGCGGATTCTGGGAAAGGGACCGTGTCCTACTTAGGAAGTTTTCTCCCGGATGTCTCTTGTTGGGACATTGATCAAGAAGGTGATAGC
AGTTTCTCAGTGCAAGAAGTTCAAGTGGATTCCAGTCACCTCCCATTGGTAAAAGGGGCAGATGAGGAACAAGTATTCCACTTTTATTGGTTGGATGCTTATGAG
GATCAGTACAACCAACCAGGTGTGGTATTTCTGTTTGGGAAAGTTTGGATTGAATCAGCCGAGACCCATGTGAGCTGTTGTGTCATGGTGAAAAATATCGAGCGA
Show »

>POLA1|5422|protein
MAPVHGDDSLSDSGSFVSSRARREKKSKKGRQEALERLKKAKAGEKYKYEVEDFTGVYEEVDEEQYSKLVQARQDDDWIVDDDGIGYVEDGREIFDDDLEDDALD
ADEKGKDGKARNKDKRNVKKLAVTKPNNIKSMFIACAGKKTADKAVDLSKDGLLGDILQDLNTETPQITPPPVMILKKKRSIGASPNPFSVHTATAVPSGKIASP
VSRKEPPLTPVPLKRAEFAGDDVQVESTEEEQESGAMEFEDGDFDEPMEVEEVDLEPMAAKAWDKESEPAEEVKQEADSGKGTVSYLGSFLPDVSCWDIDQEGDS
SFSVQEVQVDSSHLPLVKGADEEQVFHFYWLDAYEDQYNQPGVVFLFGKVWIESAETHVSCCVMVKNIERTLYFLPREMKIDLNTGKETGTPISMKDVYEEFDEK
IATKYKIMKFKSKPVEKNYAFEIPDVPEKSEYLEVKYSAEMPQLPQDLKGETFSHVFGTNTSSLELFLMNRKIKGPCWLEVKSPQLLNQPVSWCKVEAMALKPDL
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 3 (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
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top