AutismKB 2.0

Evidence Details for JAKMIP3


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Basic Information Top
Gene Symbol:JAKMIP3 ( C10orf14,C10orf39,FLJ37857,FLJ41432,Jamip3,NECC2,bA140A10.5 )
Gene Full Name: Janus kinase and microtubule interacting protein 3
Band: 10q26.3
Quick LinksEntrez ID:282973; OMIM: 611198; Uniprot ID:; ENSEMBL ID: ENSG00000188385; HGNC ID: 23523
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>JAKMIP3|282973|nucleotide
ATGTCCAAGAGGGGCATGAGCAGCCGGGCCAAGGGGGACAAGGCAGAGGCCCTCGCGGCGCTGCAGGCGGCCAACGAGGATCTTCGAGCCAAGCTCACAGACATC
CAGATCGAGCTGCAGCAGGAGAAGAGCAAGGTCAGCAAAGTGGAACGCGAGAAGAACCAGGAGCTGCGGCAGGTGCGCGAGCATGAGCAGCATAAGACCGCGGTC
TTGCTCACGGAGCTCAAGACAAAGCTGCACGAGGAGAAGATGAAGGAGCTACAGGCTGTGCGTGAGACGCTGCTGCGGCAGCATGAGGCTGAGCTGCTCAGGGTC
ATCAAGATCAAGGACAACGAGAACCAGCGGCTGCAGGCACTGCTCAGTGCCCTGCGTGATGGCGGCCCCGAAAAGGTCAAGACCGTGCTGCTGTCCGAGGCCAAG
GAGGAGGCCAAGAAGGGGTTCGAGGTGGAGAAGGTCAAGATGCAGCAGGAGATCTCCGAGCTCAAGGGCGCCAAAAGGCAGGTGGAGGAGGCGCTGACGCTGGTG
ATCCAAGCGGACAAGATCAAGGCCGCAGAGATCCGCAGCGTGTACCACCTGCACCAGGAGGAGATCACCCGCATCAAGAAGGAGTGCGAGCGGGAGATCCGCAGG
CTGATGGAGGAGATAAAATTTAAAGACAGAGCAGTCTTCGTGCTGGAGAGAGAGTTAGGGGTTCAAGCCGGGCATGCTCAGAGACTGCAGCTCCAAAAAGAGGCT
CTAGATGAGCAGCTGTCCCAGGTCCGAGAGGCCGACCGGCACCCGGGCAGCCCCAGACGGGAACTTCCTCATGCAGCTGGTGCAGGAGACGCTTCAGACCACTCG
GGAAGCCCTGAACAGCAGTTGGATGAAAAAGATGCCCGGCGCTTCCAGCTTAAAATCGCGGAGTTAAGTGCGATTATCCGCAAACTGGAGGACCGCAATGCATTG
CTGTCGGAAGAGAGGAATGAGCTGTTGAAGCGCGTAAGAGAAGCTGAGAGTCAGTACAAGCCTCTGCTGGATAAAAACAAGCGCCTCAGTCGGAAGAACGAGGAT
TTGTCTCATGCTTTACGCCGAATGGAAAACAAGTTAAAATTTGTCACCCAGGAGAACATAGAAATGAGACAGAGAGCTGGAATCATACGGAGACCCAGTTCCTTG
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>JAKMIP3|282973|protein
MSKRGMSSRAKGDKAEALAALQAANEDLRAKLTDIQIELQQEKSKVSKVEREKNQELRQVREHEQHKTAVLLTELKTKLHEEKMKELQAVRETLLRQHEAELLRV
IKIKDNENQRLQALLSALRDGGPEKVKTVLLSEAKEEAKKGFEVEKVKMQQEISELKGAKRQVEEALTLVIQADKIKAAEIRSVYHLHQEEITRIKKECEREIRR
LMEEIKFKDRAVFVLERELGVQAGHAQRLQLQKEALDEQLSQVREADRHPGSPRRELPHAAGAGDASDHSGSPEQQLDEKDARRFQLKIAELSAIIRKLEDRNAL
LSEERNELLKRVREAESQYKPLLDKNKRLSRKNEDLSHALRRMENKLKFVTQENIEMRQRAGIIRRPSSLNDLDQSQDEREVDFLKLQIVEQQNLIDELSKTLET
AGYVKSVLERDKLLRFRKQRKKMAKLPKPVVVETFFGYDEEASLESDGSSVSYQTDRTDQTPCTPDDDLEEGMAKEETELRFRQLTMEYQALQRAYALLQEQVGG
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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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top