AutismKB 2.0

Evidence Details for KIAA1370


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Basic Information Top
Gene Symbol:KIAA1370 ( FLJ10980,MGC126494,MGC126495 )
Gene Full Name: KIAA1370
Band: 15q21.2-q21.3
Quick LinksEntrez ID:56204; OMIM: NA; Uniprot ID:K1370_HUMAN; ENSEMBL ID: ENSG00000047346; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA1370|56204|nucleotide
ATGAAGCCAGACCGAGATACTCTGGATGAATATTTTGAATATGATGCAGAGGAGTTCTTGGTCTCTTTGGCCTTGCTGATAACAGAAGGACGAACACCTGAATGT
TCTGTAAAAGGTCGAACAGAAAGCTTTCATTGCCCTCCAGCACAGTCTTGTTACCCAGTAACTACCAAACATGAATGTAGTGACAAGCTGGCCCAGTGCCGCCAA
GCCAGACGAACTAGGTCTGAGGTCACATTGTTGTGGAAGAATAACCTTCCAATCATGGTGGAAATGATGCTACTACCAGACTGCTGCTACAGCGATGATGGGCCC
ACCACAGAGGGAATTGATCTAAATGATCCTGCGATTAAGCAAGATGCATTATTATTAGAAAGATGGATCTTGGAGCCAGTTCCTCGACAGAATGGTGACCGATTT
ATTGAAGAGAAGACGCTTCTGTTGGCTGTCCGCTCATTTGTGTTTTTTTCTCAGTTAAGTGCATGGCTGAGTGTTTCTCATGGTGCTATTCCACGAAATATTCTC
TACAGAATCAGTGCTGCTGATGTAGACCTACAGTGGAATTTTTCACAGACTCCAATTGAGCATGTGTTTCCTGTTCCCAATGTTTCTCACAATGTTGCCTTGAAA
GTCAGTGTTCAGTCCTTGCCCAGACAATCTAATTATCCAGTTTTGACGTGCAGTATTCACACTAATATTGGCCTTTATGAGAAAAGAATTCAACAACATAAACTT
AAAACTCATCAGCACCATAACCCAAATGAAGCAGAACAATGTGGTACAAACAGTTCACAGCGTCTGTGTAGCAAACAAACTTGGACCATGGCACCTGAAAGTGTG
TTACATGCAAAAAGTGGCCCAAGTCCAGAATATACTGCAGCTGTCAAAAATATCAAACTATATCCAGGCACTGGCAGTAAATCTGACCATGGGACATCTCAAGCC
AATATTCTAGGCTTTAGTGGTATAGGTGATATAAAATCACAAGAAACATCAGTGAGAACTTTAAAATCATTTTCAATGGTTGATTCCAGTATCTCTAACCGCCAG
AGTTTCTGGCAGTCAGCTGGTGAGACTAACCCTTTAATAGGCTCTTTAATTCAGGAGCGGCAAGAAATCATTGCAAGAATTGCCCAACATTTGATTCATTGTGAT
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>KIAA1370|56204|protein
MKPDRDTLDEYFEYDAEEFLVSLALLITEGRTPECSVKGRTESFHCPPAQSCYPVTTKHECSDKLAQCRQARRTRSEVTLLWKNNLPIMVEMMLLPDCCYSDDGP
TTEGIDLNDPAIKQDALLLERWILEPVPRQNGDRFIEEKTLLLAVRSFVFFSQLSAWLSVSHGAIPRNILYRISAADVDLQWNFSQTPIEHVFPVPNVSHNVALK
VSVQSLPRQSNYPVLTCSIHTNIGLYEKRIQQHKLKTHQHHNPNEAEQCGTNSSQRLCSKQTWTMAPESVLHAKSGPSPEYTAAVKNIKLYPGTGSKSDHGTSQA
NILGFSGIGDIKSQETSVRTLKSFSMVDSSISNRQSFWQSAGETNPLIGSLIQERQEIIARIAQHLIHCDPSTSHVSGRPFNTQESSSLHSKLFRVSQENENVGK
GKEAFSMTFGSPEFSSPEDTNEGKIRLKPETPRSETCISNDFYSHMPVGETNPLIGSLLQERQDVIARIAQHLEHIDPTASHIPRQSFNMHDSSSVASKVFRSSY
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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) 1 (1) 0 (0) 2 (2) 0 (0) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top