AutismKB 2.0

Evidence Details for CGNL1


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Basic Information Top
Gene Symbol:CGNL1 ( FLJ14957,JACOP,KIAA1749,MGC138254 )
Gene Full Name: cingulin-like 1
Band: 15q21.3
Quick LinksEntrez ID:84952; OMIM: 607856; Uniprot ID:CGNL1_HUMAN; ENSEMBL ID: ENSG00000128849; HGNC ID: 25931
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CGNL1|84952|nucleotide
ATGGAGCTGTATTTCGGTGAATATCAACATGTGCAGCAGGAATATGGGGTCCATCTGAGACTCGCAAGTGATGATACCCAAAAATCAAGGAGTTCCCAGAACTCC
AAGGCAGGCTCCTACGGTGTCAGTATTCGGGTCCAGGGAATTGATGGTCACCCCTATATTGTCCTGAATAACACAGAACGGTGCCTAGCAGGCACATCGTTTTCT
GAAAATGGGCCACCCTTTCCACCTCCAGTGATAAATAACCTGCCTCTACATTCCAGCAATGGTTCTGTGCCAAAGGAGAACAGTGAAGAACTTCAGCTTCCAGAA
AACCCATACGCCCAGCCTAGCCCAATAAGAAACCTGAAACAGCCCCTGCTCCATGAGGGCAAGAATGGAGTTCTAGATCGCAAAGACGGGTCTGTGAAGCCATCT
CACCTGCTGAACTTTCAGAGGCATCCAGAGCTTTTGCAACCCTATGACCCTGAAAAGAATGAGTTGAATTTACAAAATCACCAGCCTTCTGAGAGTAATTGGCTA
AAAACGTTGACAGAAGAAGGCATCAACAATAAGAAGCCTTGGACTTGCTTTCCCAAACCTAGCAATTCCCAGCCTACCAGTCCCTCCTTGGAAGACCCGGCCAAA
TCTGGTGTGACAGCTATTCGTTTATGCAGCTCCGTGGTCATAGAGGACCCCAAAAAGCAGACCTCAGTGTGTGTAAACGTTCAGAGCTGCACCAAGGAGAGGGTG
GGAGAGGAGGCCCTTTTCACTAGCGGGAGGCCCCTGACTGCCCACAGCCCACATGCCCACCCTGAAACCAAGAAAACCAGGCCAGATGTTCTTCCCTTCCGGCGA
CAGGATTCAGCGGGACCCGTCCTGGATGGAGCTCGGTCCCGGAGGTCCTCCTCGTCATCCACAACTCCCACGTCAGCCAACTCTTTGTACAGGTTTTTACTGGAT
GATCAGGAATGTGCCATCCATGCCGACAACGTCAATCGTCATGAAAACAGAAGGTATATTCCCTTCCTGCCAGGAACTGGACGGGATATTGATACAGGATCAATT
CCTGGTGTGGATCAGTTAATTGAAAAATTTGATCAAAAACCTGGGCTTCAGAGAAGAGGAAGGTCTGGGAAGCGAAACAGAATTAATACAGATGACAGGAAAAGA
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>CGNL1|84952|protein
MELYFGEYQHVQQEYGVHLRLASDDTQKSRSSQNSKAGSYGVSIRVQGIDGHPYIVLNNTERCLAGTSFSENGPPFPPPVINNLPLHSSNGSVPKENSEELQLPE
NPYAQPSPIRNLKQPLLHEGKNGVLDRKDGSVKPSHLLNFQRHPELLQPYDPEKNELNLQNHQPSESNWLKTLTEEGINNKKPWTCFPKPSNSQPTSPSLEDPAK
SGVTAIRLCSSVVIEDPKKQTSVCVNVQSCTKERVGEEALFTSGRPLTAHSPHAHPETKKTRPDVLPFRRQDSAGPVLDGARSRRSSSSSTTPTSANSLYRFLLD
DQECAIHADNVNRHENRRYIPFLPGTGRDIDTGSIPGVDQLIEKFDQKPGLQRRGRSGKRNRINTDDRKRSRSVDSAFPFGLQGNSEYLIEFSRNLGKSSEHLLR
PSQVCPQRPLSQERRGKQSVGRTFAKLQGAAHGASCAHSRPPQPNIDGKVLETEGSQESTVIRAPSLGAQSKKEEEVKTATATLMLQNRATATSPDSGAKKISVK
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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 (1) 1 (4) 1 (2) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 14 (9)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018