AutismKB 2.0

Evidence Details for ZWILCH


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Basic Information Top
Gene Symbol:ZWILCH ( FLJ10036,FLJ16343,KNTC1AP,MGC111034,hZwilch )
Gene Full Name: Zwilch, kinetochore associated, homolog (Drosophila)
Band: 15q22.31
Quick LinksEntrez ID:55055; OMIM: 609984; Uniprot ID:ZWILC_HUMAN; ENSEMBL ID: ENSG00000174442; HGNC ID: 25468
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZWILCH|55055|nucleotide
ATGTGGGAGCGGCTGAACTGCGCAGCAGAGGACTTTTATTCTCGTCTCCTTCAGAAATTTAATGAAGAAAAGAAAGGAATCCGTAAAGACCCATTTCTCTATGAG
GCTGATGTCCAAGTGCAGTTGATCAGCAAAGGCCAACCAAACCCTTTGAAAAATATTCTAAATGAAAATGACATAGTATTCATAGTGGAAAAAGTGCCTTTAGAA
AAGGAAGAAACAAGTCATATTGAAGAACTTCAATCTGAAGAAACTGCCATATCTGATTTCTCTACTGGCGAAAATGTTGGACCACTTGCTTTACCAGTTGGGAAG
GCAAGGCAGTTAATTGGACTTTACACCATGGCTCACAATCCTAATATGACCCATTTGAAGATTAATCTGCCAGTTACTGCCCTTCCTCCCCTTTGGGTAAGATGT
GACAGTTCAGATCCTGAAGGTACTTGTTGGCTAGGAGCTGAGCTTATCACAACAAACAACAGCATTACAGGAATTGTCTTATATGTGGTCAGTTGTAAAGCTGAT
AAAAATTATTCTGTAAATCTTGAAAACCTAAAAAATTTACACAAGAAAAGACATCACTTGTCTACTGTAACATCCAAAGGCTTTGCCCAGTATGAGCTCTTTAAG
TCCTCTGCCTTGGATGATACAATCACAGCATCACAAACTGCGATCGCTTTGGATATTTCCTGGAGTCCTGTGGATGAGATTCTTCAAATCCCTCCACTCTCTTCA
ACTGCAACTCTGAATATTAAAGTGGAATCAGGAGAGCCCAGAGGTCCTTTGAATCATCTCTACAGAGAACTGAAATTTCTTCTTGTTTTGGCTGATGGTTTGAGG
ACTGGTGTCACTGAATGGCTCGAGCCCCTGGAAGCAAAATCTGCTGTTGAACTTGTTCAGGAATTTCTGAATGACTTAAATAAGCTGGATGGATTTGGTGATTCT
ACAAAAAAAGACACTGAGGTTGAGACCTTGAAGCATGACACTGCTGCAGTCGATCGTTCCGTCAAGCGTCTTTTCAAAGTTCGGAGTGATCTTGATTTTGCTGAG
CAACTGTGGTGCAAAATGAGCAGTAGTGTGATTTCATACCAAGACTTGGTGAAGTGTTTCACATTGATCATCCAGAGTCTACAACGTGGTGATATACAGCCATGG
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>ZWILCH|55055|protein
MWERLNCAAEDFYSRLLQKFNEEKKGIRKDPFLYEADVQVQLISKGQPNPLKNILNENDIVFIVEKVPLEKEETSHIEELQSEETAISDFSTGENVGPLALPVGK
ARQLIGLYTMAHNPNMTHLKINLPVTALPPLWVRCDSSDPEGTCWLGAELITTNNSITGIVLYVVSCKADKNYSVNLENLKNLHKKRHHLSTVTSKGFAQYELFK
SSALDDTITASQTAIALDISWSPVDEILQIPPLSSTATLNIKVESGEPRGPLNHLYRELKFLLVLADGLRTGVTEWLEPLEAKSAVELVQEFLNDLNKLDGFGDS
TKKDTEVETLKHDTAAVDRSVKRLFKVRSDLDFAEQLWCKMSSSVISYQDLVKCFTLIIQSLQRGDIQPWLHSGSNSLLSKLIHQSYHGTMDTVSLSGTIPVQML
LEIGLDKLKKDYISFFIGQELASLNHLEYFIAPSVDIQEQVYRVQKLHHILEILVSCMPFIKSQHELLFSLTQICIKYYKQNPLDEQHIFQLPVRPTAVKNLYQS
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top