AutismKB 2.0

Evidence Details for MAPK8IP1


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Basic Information Top
Gene Symbol:MAPK8IP1 ( IB1,JIP-1,JIP1,PRKM8IP )
Gene Full Name: mitogen-activated protein kinase 8 interacting protein 1
Band: 11p11.2
Quick LinksEntrez ID:9479; OMIM: 604641; Uniprot ID:JIP1_HUMAN; ENSEMBL ID: ENSG00000121653; HGNC ID: 6882
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAPK8IP1|9479|nucleotide
ATGGCGGAGCGAGAAAGCGGCGGCCTGGGAGGGGGGGCCGCGTCCCCGCCCGCCGCCTCCCCGTTCCTGGGGCTGCACATCGCTTCGCCTCCCAATTTCAGGCTC
ACCCATGACATCAGCCTGGAGGAGTTTGAGGATGAAGACCTCTCGGAGATCACTGATGAGTGTGGCATCAGCTTACAGTGCAAAGACACCCTGTCCTTACGGCCC
CCGCGCGCCGGGCTGCTCTCTGCGGGCGGCGGCGGCGCGGGGAGCCGGTTGCAGGCCGAGATGCTGCAGATGGACCTGATCGACGCGACGGGGGACACTCCCGGG
GCCGAGGACGACGAGGAGGACGACGACGAGGAGCGCGCGGCCCGGCGGCCGGGAGCGGGGCCGCCCAAGGCCGAGTCCGGCCAGGAGCCGGCGTCCCGCGGCCAG
GGCCAGAGCCAAGGCCAGAGCCAGGGCCCGGGCAGCGGGGACACGTACCGGCCCAAGCGGCCCACCACGCTCAACCTCTTTCCGCAGGTGCCGCGGTCTCAGGAC
ACACTGAATAATAATTCTCTGGGCAAAAAGCACAGTTGGCAGGATCGGGTGTCTCGATCATCCTCACCCCTGAAGACAGGGGAGCAGACACCACCGCATGAACAC
ATCTGCCTGAGCGATGAGCTGCCCCCCCAGAGCGGCCCCGCCCCCACCACAGATCGAGGCACCTCCACCGACAGCCCTTGCCGCCGCAGCACAGCCACCCAGATG
GCACCTCCGGGTGGTCCCCCTGCTGCCCCGCCTGGGGGTCGGGGCCACTCGCATCGAGACCGAATCCACTACCAGGCCGATGTGCGACTAGAGGCCACTGAGGAG
ATCTACCTGACCCCAGTGCAGAGGCCCCCAGACGCTGCAGAGCCCACCTCCGCCTTCCTGCCGCCCACTGAGAGCCGGATGTCAGTCAGCTCCGATCCAGACCCT
GCCGCCTACCCCTCCACGGCAGGGCGGCCGCACCCCTCCATCAGTGAAGAGGAAGAGGGCTTCGACTGCCTGTCGTCCCCAGAGCGGGCTGAGCCCCCAGGCGGA
GGGTGGCGGGGGAGCCTGGGGGAGCCGCCGCCACCTCCACGGGCCTCTCTGAGCTCGGACACCAGCGCCCTGTCCTATGACTCTGTCAAGTACACGCTGGTGGTA
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>MAPK8IP1|9479|protein
MAERESGGLGGGAASPPAASPFLGLHIASPPNFRLTHDISLEEFEDEDLSEITDECGISLQCKDTLSLRPPRAGLLSAGGGGAGSRLQAEMLQMDLIDATGDTPG
AEDDEEDDDEERAARRPGAGPPKAESGQEPASRGQGQSQGQSQGPGSGDTYRPKRPTTLNLFPQVPRSQDTLNNNSLGKKHSWQDRVSRSSSPLKTGEQTPPHEH
ICLSDELPPQSGPAPTTDRGTSTDSPCRRSTATQMAPPGGPPAAPPGGRGHSHRDRIHYQADVRLEATEEIYLTPVQRPPDAAEPTSAFLPPTESRMSVSSDPDP
AAYPSTAGRPHPSISEEEEGFDCLSSPERAEPPGGGWRGSLGEPPPPPRASLSSDTSALSYDSVKYTLVVDEHAQLELVSLRPCFGDYSDESDSATVYDNCASVS
SPYESAIGEEYEEAPRPQPPACLSEDSTPDEPDVHFSKKFLNVFMSGRSRSSSAESFGLFSCIINGEEQEQTHRAIFRFVPRHEDELELEVDDPLLVELQAEDYW
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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) 1 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top