AutismKB 2.0

Evidence Details for RIPK4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RIPK4 ( ANKK2,ANKRD3,DIK,MGC129992,MGC129993,PKK,RIP4 )
Gene Full Name: receptor-interacting serine-threonine kinase 4
Band: 21q22.3
Quick LinksEntrez ID:54101; OMIM: 605706; Uniprot ID:Q96T11_HUMAN; ENSEMBL ID: ENSG00000183421; HGNC ID: 496
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RIPK4|54101|nucleotide
ATGGAGGGCGACGGCGGGACCCCATGGGCCCTGGCGCTGCTGCGCACCTTCGACGCGGGCGAGTTCACGGGCTGGGAGAAGGTGGGCTCGGGCGGCTTCGGGCAG
GTGTACAAGGTGCGCCATGTCCACTGGAAGACCTGGCTGGCCATCAAGTGCTCGCCCAGCCTGCACGTCGACGACAGGGAGCGCATGGAGCTTTTGGAAGAAGCC
AAGAAGATGGAGATGGCCAAGTTTCGCTACATCCTGCCTGTGTATGGCATCTGCCGCGAACCTGTCGGCCTGGTCATGGAGTACATGGAGACGGGCTCCCTGGAA
AAGCTGCTGGCTTCGGAGCCATTGCCATGGGATCTCCGGTTCCGAATCATCCACGAGACGGCGGTGGGCATGAACTTCCTGCACTGCATGGCCCCGCCACTCCTG
CACCTGGACCTCAAGCCCGCGAACATCCTGCTGGATGCCCACTACCACGTCAAGATTTCTGATTTTGGTCTGGCCAAGTGCAACGGGCTGTCCCACTCGCATGAC
CTCAGCATGGATGGCCTGTTTGGCACAATCGCCTACCTCCCTCCAGAGCGCATCAGGGAGAAGAGCCGGCTCTTCGACACCAAGCACGATGTATACAGCTTTGCG
ATCGTCATCTGGGGCGTGCTCACACAGAAGAAGCCGTTTGCAGATGAGAAGAACATCCTGCACATCATGGTGAAGGTGGTGAAGGGCCACCGCCCCGAGCTGCCG
CCCGTGTGCAGAGCCCGGCCGCGCGCCTGCAGCCACCTGATACGCCTCATGCAGCGGTGCTGGCAGGGGGATCCGCGAGTTAGGCCCACCTTCCAAGAAATTACT
TCTGAAACCGAGGACCTGTGTGAAAAGCCTGATGACGAAGTGAAAGAAACTGCTCATGATCTGGACGTGAAAAGCCCCCCGGAGCCCAGGAGCGAGGTGGTGCCT
GCGAGGCTCAAGCGGGCCTCTGCCCCCACCTTCGATAACGACTACAGCCTCTCCGAGCTGCTCTCACAGCTGGACTCTGGAGTTTCCCAGGCTGTCGAGGGCCCC
GAGGAGCTCAGCCGCAGCTCCTCTGAGTCCAAGCTGCCATCGTCCGGCAGTGGGAAGAGGCTCTCGGGGGTGTCCTCGGTGGACTCCGCCTTCTCTTCCAGAGGA
Show »

>RIPK4|54101|protein
MEGDGGTPWALALLRTFDAGEFTGWEKVGSGGFGQVYKVRHVHWKTWLAIKCSPSLHVDDRERMELLEEAKKMEMAKFRYILPVYGICREPVGLVMEYMETGSLE
KLLASEPLPWDLRFRIIHETAVGMNFLHCMAPPLLHLDLKPANILLDAHYHVKISDFGLAKCNGLSHSHDLSMDGLFGTIAYLPPERIREKSRLFDTKHDVYSFA
IVIWGVLTQKKPFADEKNILHIMVKVVKGHRPELPPVCRARPRACSHLIRLMQRCWQGDPRVRPTFQEITSETEDLCEKPDDEVKETAHDLDVKSPPEPRSEVVP
ARLKRASAPTFDNDYSLSELLSQLDSGVSQAVEGPEELSRSSSESKLPSSGSGKRLSGVSSVDSAFSSRGSLSLSFEREPSTSDLGTTDVQKKKLVDAIVSGDTS
KLMKILQPQDVDLALDSGASLLHLAVEAGQEECAKWLLLNNANPNLSNRRGSTPLHMAVERRVRGVVELLLARKISVNAKDEDQWTALHFAAQNGDESSTRLLLE
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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top