AutismKB 2.0

Evidence Details for KIAA1949


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Basic Information Top
Gene Symbol:KIAA1949 ( HKMT1098 )
Gene Full Name: KIAA1949
Band: 6p21.3
Quick LinksEntrez ID:170954; OMIM: 610990; Uniprot ID:PHTNS_HUMAN; ENSEMBL ID: ENSG00000146112; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA1949|170954|nucleotide
ATGGCCACCATCCCAGACTGGAAGCTACAGCTGCTAGCCCGGCGCCGGCAGGAGGAGGCGTCCGTTCGAGGCCGAGAGAAAGCAGAACGGGAGCGCCTGTCCCAG
ATGCCAGCCTGGAAACGAGGGCTCCTGGAGCGCCGCCGGGCCAAGCTTGGGCTGTCCCCTGGGGAGCCTAGCCCTGTGCTAGGGACTGTAGAGGCTGGACCTCCA
GACCCGGATGAGTCTGCGGTCCTTCTGGAGGCCATCGGGCCAGTGCACCAGAACCGATTCATCCGGCAGGAGCGGCAGCAGCAGCAGCAGCAACAACAACGGAGT
GAAGAGCTGCTAGCAGAGAGAAAGCCTGGGCCTCTGGAGGCCCGGGAGCGGAGACCCAGCCCTGGGGAGATGCGGGATCAGAGCCCCAAGGGAAGAGAGTCAAGA
GAAGAGAGACTAAGTCCGAGGGAGACCAGAGAGAGGAGGCTGGGGATAGGGGGAGCCCAAGAGTTGAGCCTGAGGCCTCTGGAGGCTCGGGACTGGAGGCAAAGC
CCAGGAGAGGTGGGAGACAGGAGCTCCCGACTGTCAGAGGCATGGAAATGGAGGCTGAGTCCTGGAGAAACTCCAGAGCGGAGTCTGAGACTAGCAGAGTCTCGA
GAGCAAAGCCCCAGGAGAAAAGAGGTGGAAAGTAGACTGAGCCCAGGGGAATCTGCCTACCAGAAGTTGGGCCTGACAGAGGCCCATAAATGGAGACCTGACTCC
AGAGAGTCTCAGGAACAGAGTTTGGTACAACTGGAGGCAACAGAGTGGAGGCTGAGGTCAGGAGAAGAAAGACAAGACTACTCGGAAGAATGTGGGAGAAAAGAA
GAGTGGCCAGTTCCAGGGGTAGCTCCAAAAGAGACTGCAGAGCTGTCCGAGACCCTGACAAGGGAGGCCCAAGGCAACAGTTCCGCAGGAGTGGAGGCAGCAGAG
CAGAGGCCTGTGGAAGATGGCGAGAGGGGCATGAAGCCAACAGAAGGGTGGAAATGGACCCTGAACTCCGGGAAGGCTCGAGAATGGACACCCAGGGACATAGAG
GCTCAAACTCAGAAACCAGAACCTCCAGAGTCAGCAGAGAAGCTTCTGGAATCTCCCGGTGTGGAGGCTGGAGAAGGGGAGGCTGAGAAGGAGGAGGCGGGGGCT
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>KIAA1949|170954|protein
MATIPDWKLQLLARRRQEEASVRGREKAERERLSQMPAWKRGLLERRRAKLGLSPGEPSPVLGTVEAGPPDPDESAVLLEAIGPVHQNRFIRQERQQQQQQQQRS
EELLAERKPGPLEARERRPSPGEMRDQSPKGRESREERLSPRETRERRLGIGGAQELSLRPLEARDWRQSPGEVGDRSSRLSEAWKWRLSPGETPERSLRLAESR
EQSPRRKEVESRLSPGESAYQKLGLTEAHKWRPDSRESQEQSLVQLEATEWRLRSGEERQDYSEECGRKEEWPVPGVAPKETAELSETLTREAQGNSSAGVEAAE
QRPVEDGERGMKPTEGWKWTLNSGKAREWTPRDIEAQTQKPEPPESAEKLLESPGVEAGEGEAEKEEAGAQGRPLRALQNCCSVPSPLPPEDAGTGGLRQQEEEA
VELQPPPPAPLSPPPPAPTAPQPPGDPLMSRLFYGVKAGPGVGAPRRSGHTFTVNPRRSVPPATPATPTSPATVDAAVPGAGKKRYPTAEEILVLGGYLRLSRSC
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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) 0 (2) 0 (0) 0 (1) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top