AutismKB 2.0

Evidence Details for CGN


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Basic Information Top
Gene Symbol:CGN ( DKFZp779N1112,FLJ39281,KIAA1319 )
Gene Full Name: cingulin
Band: 1q21.3
Quick LinksEntrez ID:57530; OMIM: 609473; Uniprot ID:CING_HUMAN; ENSEMBL ID: ENSG00000143375; HGNC ID: 17429
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CGN|57530|nucleotide
ATGGAGCAGGCACCCAACATGGCTGAGCCCCGGGGCCCCGTAGACCATGGAGTCCAGATTCGCTTCATCACAGAGCCAGTGAGTGGTGCAGAGATGGGCACTCTA
CGTCGAGGTGGACGACGCCCAGCTAAGGATGCAAGAGCCAGTACCTACGGGGTTGCTGTGCGTGTGCAGGGAATCGCTGGGCAGCCCTTTGTGGTGCTCAACAGT
GGGGAGAAAGGCGGTGACTCCTTTGGGGTCCAAATCAAGGGGGCCAATGACCAAGGGGCCTCAGGAGCTCTGAGCTCAGATTTGGAACTCCCTGAGAACCCCTAC
TCTCAGGTCAAGGGATTTCCTGCCCCCTCGCAGAGCAGCACATCTGATGAGGAGCCTGGGGCCTACTGGAATGGAAAGCTACTCCGTTCCCACTCCCAGGCCTCA
CTGGCAGGCCCTGGCCCAGTGGATCCTAGTAACAGAAGCAACAGCATGCTGGAGCTAGCCCCGAAAGTGGCTTCCCCAGGTAGCACCATTGACACTGCTCCCCTG
TCTTCAGTGGACTCACTCATCAACAAGTTTGACAGTCAACTTGGAGGCCAGGCCCGGGGTCGGACTGGCCGCCGAACACGGATGCTACCCCCTGAACAGCGCAAA
CGGAGCAAGAGCCTGGACAGCCGCCTCCCACGGGACACCTTTGAGGAACGGGAGCGCCAGTCCACCAACCACTGGACCTCTAGCACAAAATATGACAACCATGTG
GGCACTTCGAAGCAGCCAGCCCAGAGCCAGAACCTGAGTCCTCTCAGTGGCTTTAGCCGTTCTCGTCAGACTCAGGACTGGGTCCTTCAGAGTTTTGAGGAGCCG
CGGAGGAGTGCACAGGACCCCACCATGCTGCAGTTCAAATCAACTCCAGACCTCCTTCGAGACCAGCAGGAGGCAGCCCCACCAGGCAGTGTGGACCATATGAAG
GCCACCATCTATGGCATCCTGAGGGAGGGAAGCTCAGAAAGTGAAACCTCTGTGAGGAGGAAGGTTAGTTTGGTGCTGGAGAAGATGCAGCCTCTAGTGATGGTT
TCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGAAGCGGCAGAAGCTA
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>CGN|57530|protein
MEQAPNMAEPRGPVDHGVQIRFITEPVSGAEMGTLRRGGRRPAKDARASTYGVAVRVQGIAGQPFVVLNSGEKGGDSFGVQIKGANDQGASGALSSDLELPENPY
SQVKGFPAPSQSSTSDEEPGAYWNGKLLRSHSQASLAGPGPVDPSNRSNSMLELAPKVASPGSTIDTAPLSSVDSLINKFDSQLGGQARGRTGRRTRMLPPEQRK
RSKSLDSRLPRDTFEERERQSTNHWTSSTKYDNHVGTSKQPAQSQNLSPLSGFSRSRQTQDWVLQSFEEPRRSAQDPTMLQFKSTPDLLRDQQEAAPPGSVDHMK
ATIYGILREGSSESETSVRRKVSLVLEKMQPLVMVSSGSTKAVAGQGELTRKVEELQRKLDEEVKKRQKLEPSQVGLERQLEEKTEECSRLQELLERRKGEAQQS
NKELQNMKRLLDQGEDLRHGLETQVMELQNKLKHVQGPEPAKEVLLKDLLETRELLEEVLEGKQRVEEQLRLRERELTALKGALKEEVASRDQEVEHVRQQYQRD
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top