AutismKB 2.0

Evidence Details for KNDC1


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Basic Information Top
Gene Symbol:KNDC1 ( C10orf23,FLJ16067,RASGEF2,bB439H18.3 )
Gene Full Name: kinase non-catalytic C-lobe domain (KIND) containing 1
Band: 10q26.3
Quick LinksEntrez ID:85442; OMIM: NA; Uniprot ID:VKIND_HUMAN; ENSEMBL ID: ENSG00000171798; HGNC ID: 29374
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KNDC1|85442|nucleotide
ATGCAGGCCATGGACCCGGCCGCGGCGGATCTTTACGAGGAGGACGGCAAAGACCTGGACTTCTACGACTTCGAGCCGCTGCCCACCCTCCCCGAGGACGAGGAG
AACGTGTCTCTGGCTGACATCCTCTCCCTGCGGGACCGCGGCCTCAGCGAGCAGGAAGCCTGGGCCGTGTGCCTGGAGTGCAGCCTGTCCATGCGGAGCGTGGCC
CACGCCGCCATCTTCCAGAGCCTGTGCATCACGCCCGACACCCTGGCCTTCAACACCAGCGGGAACGTGTGTTTCATGGAGCAGCTCAGCGACGACCCTGAGGGT
GCCTTCGTTCCCCCCGAGTTCGACGTGACCGGGAACACCTTTGAGGCGCACATCTACTCTCTGGGGGCCACGCTGAAGGCCGCCCTCGAGTACGTGGCAGAGCCC
ACACTGGAACCCAGGCTGAGCCAAGACCTCGAGGCGCTGCTGAGCCGGATGCAGGCGGAGGACCCCGGGGACCGGCCGGACCTTGAGAGCATCATCGCGCTGTGT
GAAGAGAAGCTGCAGCTCACATCCTCCTGTCGCGTGTGCCGGAGCCTCTCTGCTGTGGGGAGGAGGGTCCTCTCCATCGAGTCCTTCGGAGCGCTGCAGGATGTC
AGCGAGAGCAGCTGGCGGGAGAGACCTGCCCCAGGAAACGCTGGGCCCAGGAGGCCGCCCGGGGACCCCAGCACTGACCCGGAGGTTCTGCCGACCCCCGAAGGC
CCGGAGTCTGAGACGAGCCGGGGCCCCAGAGCCTCCCCAACCAAGGCTCTGCTGTCCACCCCGGTGAGAAATGGCGAGAGCCACAGCCGGGAGGGGCTGGCCGGC
CTCGTCCTGGATGCCGAGCGCACCCTCGGGGAGCTGGACAGAGACGCCCTCAGGAGAAGCCGCCTGCGGAAGGTGCAGACGTTCCCTAGGCTGCTGTCCGACAGC
CCCGAGGCCACCCTCTGCCTGCCGCTGACCCGCGGGAAAAGCCAGCTGCCCATATCGGAATTATTCTCTCCGGACCCCAGGAAGGCCTTTCTGGACAGGAAAAAT
GGCCTTTCTAGCTTCCAGGCTCAGCCCAAATGCAGGCTGTGGCCGGAGCAGGAGCCGGAACACCAGCTGGGACGGGTTCCCTGTGCAGGCCGCAGCACGGACAGG
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>KNDC1|85442|protein
MQAMDPAAADLYEEDGKDLDFYDFEPLPTLPEDEENVSLADILSLRDRGLSEQEAWAVCLECSLSMRSVAHAAIFQSLCITPDTLAFNTSGNVCFMEQLSDDPEG
AFVPPEFDVTGNTFEAHIYSLGATLKAALEYVAEPTLEPRLSQDLEALLSRMQAEDPGDRPDLESIIALCEEKLQLTSSCRVCRSLSAVGRRVLSIESFGALQDV
SESSWRERPAPGNAGPRRPPGDPSTDPEVLPTPEGPESETSRGPRASPTKALLSTPVRNGESHSREGLAGLVLDAERTLGELDRDALRRSRLRKVQTFPRLLSDS
PEATLCLPLTRGKSQLPISELFSPDPRKAFLDRKNGLSSFQAQPKCRLWPEQEPEHQLGRVPCAGRSTDRGPGVPGSPGQPETSHPSQGPAEAPADPRDASGEAQ
TPRDDERIPEGARQLESAAAEQWVSLQDLLSQLGRPFREYELWALCLACLRALQTRPEHPAYLCLDSVLVAEDGAVLFQPPPANGSYDSFFLAPELAEERLVTEK
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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 (2) 0 (0) 0 (0) 1 (1) 0 (2) 0 (0) 0 (0) 0 (0) 1 (5)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top