AutismKB 2.0

Evidence Details for CCIN


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Basic Information Top
Gene Symbol:CCIN ( - )
Gene Full Name: calicin
Band: 9p13.3
Quick LinksEntrez ID:881; OMIM: 603960; Uniprot ID:CALI_HUMAN; ENSEMBL ID: ENSG00000185972; HGNC ID: 1568
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCIN|881|nucleotide
ATGAAATTGGAATTCACGGAGAAAAACTACAATAGCTTCGTGCTGCAGAACCTGAACAGACAGAGGAAACGCAAAGAGTACTGGGACATGGCCCTGAGTGTGGAC
AACCACGTCTTCTTTGCACATCGCAATGTGCTGGCTGCTGTCTCCCCACTGGTGAGGAGCCTCATCTCCAGCAATGACATGAAGACCGCTGATGAGCTTTTCATC
ACCATTGACACCAGTTACCTGAGCCCGGTCACAGTGGACCAGCTTCTGGACTACTTCTATAGCGGCAAGGTGGTGATCTCCGAGCAAAATGTGGAGGAGCTGCTT
CGTGGGGCTCAGTATTTCAACACACCACGCCTTCGAGTTCACTGTAACGACTTCCTTATTAAGTCCATCTGCCGTGCCAACTGCTTGCGCTACCTCTTCTTGGCT
GAGCTGTTTGAGCTCAAAGAGGTATCAGACGTAGCTTACTCTGGCATTCGGGACAACTTCCACTACTGGGCCAGTCCTGAGGGCTCCATGCACTTCATGCGCTGT
CCACCTGTTATCTTTGGCCGCCTGCTCCGTGATGAAAACCTTCACGTGCTCAATGAAGACCAGGCGCTCAGCGCACTCATCAATTGGGTGTACTTCCGGAAGGAG
GATCGGGAGAAGTATTTCAAGAAGTTCTTCAATTACATCAATCTCAATGCTGTCTCCAATAAGACGCTGGTGTTTGCCAGCAACAAGCTGGTGGGCATGGAGAAC
ACCTCATCCCATACAACCCTGATTGAGAGTGTCCTGATGGACCGCAAGCAGGAGCGGCCATGCAGCCTGCTGGTCTACCAGCGGAAAGGGGCCCTGCTTGATTCC
GTGGTCATCCTCGGTGGCCAGAAGGCCCACGGCCAGTTCAATGATGGAGTGTTTGCTTATATCATCCAGGAGAACCTGTGGATGAAGCTCTCAGACATGCCCTAT
CGGGCAGCAGCACTTAGTGCCACCTCTGCTGGTCGCTACATCTACATCTCTGGTGGCACCACTGAGCAGATTTCAGGGCTGAAGACAGCCTGGCGGTATGACATG
GATGACAACTCCTGGACCAAGTTGCCTGACCTGCCCATCGGGCTTGTCTTCCACACCATGGTGACCTGTGGGGGGACAGTGTACTCAGTGGGCGGGAGCATTGCC
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>CCIN|881|protein
MKLEFTEKNYNSFVLQNLNRQRKRKEYWDMALSVDNHVFFAHRNVLAAVSPLVRSLISSNDMKTADELFITIDTSYLSPVTVDQLLDYFYSGKVVISEQNVEELL
RGAQYFNTPRLRVHCNDFLIKSICRANCLRYLFLAELFELKEVSDVAYSGIRDNFHYWASPEGSMHFMRCPPVIFGRLLRDENLHVLNEDQALSALINWVYFRKE
DREKYFKKFFNYINLNAVSNKTLVFASNKLVGMENTSSHTTLIESVLMDRKQERPCSLLVYQRKGALLDSVVILGGQKAHGQFNDGVFAYIIQENLWMKLSDMPY
RAAALSATSAGRYIYISGGTTEQISGLKTAWRYDMDDNSWTKLPDLPIGLVFHTMVTCGGTVYSVGGSIAPRRYVSNIYRYDERKEVWCLAGKMSIPMDGTAVIT
KGDRHLYIVTGRCLVKGYISRVGVVDCFDTSTGDVVQCITFPIEFNHRPLLSFQQDNILCVHSHRQSVEINLQKVKASKTTTSVPVLPNSCPLDVSHAICSIGDS
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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) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (1) 0 (0) 12 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
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.

Simple Query:


  (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