AutismKB 2.0

Evidence Details for MAP4K1


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Basic Information Top
Gene Symbol:MAP4K1 ( HPK1 )
Gene Full Name: mitogen-activated protein kinase kinase kinase kinase 1
Band: 19q13.1-q13.4
Quick LinksEntrez ID:11184; OMIM: 601983; Uniprot ID:M4K1_HUMAN; ENSEMBL ID: ENSG00000104814; HGNC ID: 6863
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAP4K1|11184|nucleotide
ATGGACGTCGTGGACCCTGACATTTTCAATAGAGACCCCCGGGACCACTATGACCTGCTACAGCGGCTGGGTGGCGGCACGTATGGGGAAGTCTTTAAGGCTCGA
GACAAGGTGTCAGGGGACCTGGTGGCACTGAAGATGGTGAAGATGGAGCCTGATGATGATGTCTCCACCCTTCAGAAGGAAATCCTCATATTGAAAACTTGCCGG
CACGCCAACATCGTGGCCTACCATGGGAGTTATCTCTGGTTGCAGAAACTCTGGATCTGCATGGAATTCTGTGGGGCTGGTTCTCTCCAGGACATCTACCAAGTG
ACAGGCTCCCTGTCAGAGCTCCAGATTAGCTATGTCTGCCGGGAAGTGCTCCAGGGACTGGCCTATTTGCACTCACAGAAGAAGATACACAGGGACATCAAGGGA
GCTAACATCCTCATCAATGATGCTGGGGAGGTCAGATTGGCTGACTTTGGCATCTCGGCCCAGATTGGGGCTACACTGGCCAGACGCCTCTCTTTCATTGGGACA
CCCTACTGGATGGCTCCGGAAGTGGCAGCTGTGGCCCTGAAGGGAGGATACAATGAGCTGTGTGACATCTGGTCCCTGGGCATCACGGCCATCGAACTGGCCGAG
CTACAGCCACCGCTCTTTGATGTGCACCCTCTCAGAGTTCTCTTCCTCATGACCAAGAGTGGCTACCAGCCTCCCCGACTGAAGGAAAAAGGCAAATGGTCGGCT
GCCTTCCACAACTTCATCAAAGTCACTCTGACTAAGAGTCCCAAGAAACGACCCAGCGCCACCAAGATGCTCAGTCATCAACTGGTATCCCAGCCTGGGCTGAAT
CGAGGCCTGATCCTGGATCTTCTTGACAAACTGAAGAATCCCGGGAAAGGACCCTCCATTGGGGACATTGAGGATGAGGAGCCCGAGCTACCCCCTGCTATCCCT
CGGCGGATCAGATCCACCCACCGCTCCAGCTCTCTGGGGATCCCAGATGCAGACTGCTGTCGGCGGCACATGGAGTTCAGGAAGCTCCGAGGAATGGAGACCAGA
CCCCCAGCCAACACCGCTCGCCTACAGCCTCCTCGAGACCTCAGGAGCAGCAGCCCCAGGAAGCAACTGTCAGAGTCGTCTGACGATGACTATGACGACGTGGAC
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>MAP4K1|11184|protein
MDVVDPDIFNRDPRDHYDLLQRLGGGTYGEVFKARDKVSGDLVALKMVKMEPDDDVSTLQKEILILKTCRHANIVAYHGSYLWLQKLWICMEFCGAGSLQDIYQV
TGSLSELQISYVCREVLQGLAYLHSQKKIHRDIKGANILINDAGEVRLADFGISAQIGATLARRLSFIGTPYWMAPEVAAVALKGGYNELCDIWSLGITAIELAE
LQPPLFDVHPLRVLFLMTKSGYQPPRLKEKGKWSAAFHNFIKVTLTKSPKKRPSATKMLSHQLVSQPGLNRGLILDLLDKLKNPGKGPSIGDIEDEEPELPPAIP
RRIRSTHRSSSLGIPDADCCRRHMEFRKLRGMETRPPANTARLQPPRDLRSSSPRKQLSESSDDDYDDVDIPTPAEDTPPPLPPKPKFRSPSDEGPGSMGDDGQL
SPGVLVRCASGPPPNSPRPGPPPSTSSPHLTAHSEPSLWNPPSRELDKPPLLPPKKEKMKRKGCALLVKLFNGCPLRIHSTAAWTHPSTKDQHLLLGAEEGIFIL
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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) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top