AutismKB 2.0

Evidence Details for POLN


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:POLN ( POL4P )
Gene Full Name: polymerase (DNA directed) nu
Band: 4p16.3
Quick LinksEntrez ID:353497; OMIM: 610887; Uniprot ID:DPOLN_HUMAN; ENSEMBL ID: ENSG00000130997; HGNC ID: 18870
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLN|353497|nucleotide
ATGGAAAATTATGAGGCATTGGTAGGCTTTGATCTCTGTAATACACCGCTCTCCAGTGTTGCTCAGAAGATTATGTCTGCTATGCATTCAGGTGATTTAGTGGAT
TCTAAGACTTGGGGAAAGAGTACAGAGACTATGGAAGTGATAAACAAGTCCAGTGTTAAGTATTCAGTACAACTTGAAGACAGGAAGACTCAATCACCAGAAAAA
AAGGATCTTAAATCTTTAAGAAGTCAGACATCAAGAGGTTCTGCCAAGCTGTCTCCTCAGTCCTTCAGTGTCAGGCTCACAGATCAGCTGTCTGCTGACCAAAAA
CAGAAGAGCATCAGCTCATTGACTCTTTCAAGTTGTTTAATTCCACAGTATAATCAAGAGGCTTCAGTTCTACAGAAAAAGGGGCATAAAAGAAAGCATTTCCTA
ATGGAGAATATAAATAATGAAAATAAAGGAAGCATTAATCTTAAAAGAAAACATATTACATATAATAATTTGTCAGAGAAAACAAGTAAACAAATGGCATTGGAA
GAAGATACTGATGACGCCGAAGGCTACCTAAATTCTGGGAACTCAGGAGCATTGAAAAAACATTTTTGTGATATTAGGCATTTGGATGATTGGGCAAAAAGCCAG
CTGATTGAAATGCTCAAACAGGCAGCAGCCCTGGTGATAACTGTGATGTATACTGATGGTTCCACCCAGCTAGGAGCTGACCAGACCCCCGTTTCTTCTGTTAGA
GGAATTGTGGTGTTAGTAAAACGCCAAGCAGAGGGTGGCCATGGCTGTCCAGATGCCCCGGCCTGTGGTCCTGTTCTGGAGGGCTTTGTGTCAGATGATCCATGC
ATCTACATTCAAATAGAGCACTCTGCTATCTGGGACCAAGAACAGGAGGCACATCAACAATTTGCCCGGAACGTGCTATTTCAAACAATGAAATGTAAATGTCCT
GTTATTTGTTTTAATGCTAAGGATTTTGTGAGAATAGTGCTGCAGTTTTTTGGCAATGATGGCAGTTGGAAGCATGTTGCTGATTTTATAGGGCTAGATCCCAGA
ATTGCTGCATGGCTTATAGATCCTAGTGATGCCACACCCTCTTTTGAAGATTTAGTAGAAAAATACTGTGAAAAATCCATTACAGTTAAAGTGAACAGCACATAT
Show »

>POLN|353497|protein
MENYEALVGFDLCNTPLSSVAQKIMSAMHSGDLVDSKTWGKSTETMEVINKSSVKYSVQLEDRKTQSPEKKDLKSLRSQTSRGSAKLSPQSFSVRLTDQLSADQK
QKSISSLTLSSCLIPQYNQEASVLQKKGHKRKHFLMENINNENKGSINLKRKHITYNNLSEKTSKQMALEEDTDDAEGYLNSGNSGALKKHFCDIRHLDDWAKSQ
LIEMLKQAAALVITVMYTDGSTQLGADQTPVSSVRGIVVLVKRQAEGGHGCPDAPACGPVLEGFVSDDPCIYIQIEHSAIWDQEQEAHQQFARNVLFQTMKCKCP
VICFNAKDFVRIVLQFFGNDGSWKHVADFIGLDPRIAAWLIDPSDATPSFEDLVEKYCEKSITVKVNSTYGNSSRNIVNQNVRENLKTLYRLTMDLCSKLKDYGL
WQLFRTLELPLIPILAVMESHAIQVNKEEMEKTSALLGARLKELEQEAHFVAGERFLITSNNQLREILFGKLKLHLLSQRNSLPRTGLQKYPSTSEAVLNALRDL
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) 0 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top