AutismKB 2.0

Evidence Details for MAP3K13


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MAP3K13 ( LZK,MEKK13,MGC133196 )
Gene Full Name: mitogen-activated protein kinase kinase kinase 13
Band: 3q27.2
Quick LinksEntrez ID:9175; OMIM: 604915; Uniprot ID:M3K13_HUMAN; ENSEMBL ID: ENSG00000073803; HGNC ID: 6852
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAP3K13|9175|nucleotide
ATGGCCAACTTTCAGGAGCACCTGAGCTGCTCCTCTTCTCCACACTTACCCTTCAGTGAAAGCAAAACCTTCAATGGACTACAAGATGAGCTCACAGCTATGGGG
AACCACCCTTCTCCCAAGCTGCTCGAGGACCAGCAGGAAAAGGGGATGGTACGAACAGAGCTAATCGAGAGCGTGCACAGCCCCGTCACCACAACAGTGTTGACG
AGCGTAAGTGAGGATTCCAGGGACCAGTTTGAGAACAGCGTTCTTCAGCTAAGGGAACACGATGAATCAGAGACGGCGGTGTCTCAGGGGAACAGCAACACGGTG
GACGGAGAGAGCACAAGCGGAACTGAAGACATAAAGATTCAGTTCAGCAGGTCAGGCAGTGGCAGTGGTGGGTTTCTTGAAGGACTATTTGGATGCTTAAGGCCT
GTATGGAATATCATTGGGAAGGCATATTCCACTGATTACAAATTGCAGCAGCAAGATACTTGGGAAGTGCCATTTGAGGAGATCTCAGAGCTGCAGTGGCTGGGT
AGTGGAGCCCAAGGAGCGGTCTTCTTGGGCAAGTTCCGGGCGGAAGAGGTGGCCATCAAGAAAGTGAGAGAACAGAATGAGACGGATATCAAGCATTTGAGGAAG
TTGAAGCACCCTAACATCATCGCATTCAAGGGTGTTTGTACTCAGGCCCCATGTTATTGTATTATCATGGAATACTGTGCCCATGGACAACTCTACGAGGTCTTA
CGAGCTGGCAGGAAGATCACACCTCGATTGCTAGTAGACTGGTCCACAGGAATTGCAAGTGGAATGAATTATTTGCACCTCCATAAAATTATTCATCGTGATCTC
AAATCACCTAATGTTTTAGTGACCCACACAGATGCGGTAAAAATTTCAGATTTTGGTACATCTAAGGAACTCAGTGACAAAAGTACCAAGATGTCATTTGCTGGC
ACGGTCGCATGGATGGCGCCAGAGGTGATACGGAATGAACCTGTCTCTGAAAAAGTTGATATATGGTCTTTTGGAGTGGTGCTTTGGGAGCTGCTGACAGGAGAG
ATCCCTTACAAAGATGTAGATTCTTCAGCCATTATCTGGGGTGTTGGAAGCAACAGCCTCCACCTTCCAGTTCCTTCCACTTGCCCTGATGGATTCAAAATCCTT
Show »

>MAP3K13|9175|protein
MANFQEHLSCSSSPHLPFSESKTFNGLQDELTAMGNHPSPKLLEDQQEKGMVRTELIESVHSPVTTTVLTSVSEDSRDQFENSVLQLREHDESETAVSQGNSNTV
DGESTSGTEDIKIQFSRSGSGSGGFLEGLFGCLRPVWNIIGKAYSTDYKLQQQDTWEVPFEEISELQWLGSGAQGAVFLGKFRAEEVAIKKVREQNETDIKHLRK
LKHPNIIAFKGVCTQAPCYCIIMEYCAHGQLYEVLRAGRKITPRLLVDWSTGIASGMNYLHLHKIIHRDLKSPNVLVTHTDAVKISDFGTSKELSDKSTKMSFAG
TVAWMAPEVIRNEPVSEKVDIWSFGVVLWELLTGEIPYKDVDSSAIIWGVGSNSLHLPVPSTCPDGFKILMKQTWQSKPRNRPSFRQTLMHLDIASADVLATPQE
TYFKSQAEWREEVKKHFEKIKSEGTCIHRLDEELIRRRREELRHALDIREHYERKLERANNLYMELSAIMLQLEMREKELIKREQAVEKKYPGTYKRHPVRPIIH
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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top