AutismKB 2.0

Evidence Details for DCC


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Basic Information Top
Gene Symbol:DCC ( CRC18,CRCR1,IGDCC1 )
Gene Full Name: deleted in colorectal carcinoma
Band: 18q21.2
Quick LinksEntrez ID:1630; OMIM: 120470; Uniprot ID:DCC_HUMAN; ENSEMBL ID: ENSG00000187323; HGNC ID: 2701
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DCC|1630|nucleotide
ATGGAGAATAGTCTTAGATGTGTTTGGGTACCCAAGCTGGCTTTTGTACTCTTCGGAGCTTCCTTGTTCAGCGCGCATCTTCAAGTAACCGGTTTTCAAATTAAA
GCTTTCACAGCACTGCGCTTCCTCTCAGAACCTTCTGATGCCGTCACAATGCGGGGAGGAAATGTCCTCCTCGACTGCTCCGCGGAGTCCGACCGAGGAGTTCCA
GTGATCAAGTGGAAGAAAGATGGCATTCATCTGGCCTTGGGAATGGATGAAAGGAAGCAGCAACTTTCAAATGGGTCTCTGCTGATACAAAACATACTTCATTCC
AGACACCACAAGCCAGATGAGGGACTTTACCAATGTGAGGCATCTTTAGGAGATTCTGGCTCAATTATTAGTCGGACAGCAAAAGTTGCAGTAGCAGGACCACTG
AGGTTCCTTTCACAGACAGAATCTGTCACAGCCTTCATGGGAGACACAGTGCTACTCAAGTGTGAAGTCATTGGGGAGCCCATGCCAACAATCCACTGGCAGAAG
AACCAACAAGACCTGACTCCAATCCCAGGTGACTCCCGAGTGGTGGTCTTGCCCTCTGGAGCATTGCAGATCAGCCGACTCCAACCGGGGGACATTGGAATTTAC
CGATGCTCAGCTCGAAATCCAGCCAGCTCAAGAACAGGAAATGAAGCAGAAGTCAGAATTTTATCAGATCCAGGACTGCATAGACAGCTGTATTTTCTGCAAAGA
CCATCCAATGTAGTAGCCATTGAAGGAAAAGATGCTGTCCTGGAATGTTGTGTTTCTGGCTATCCTCCACCAAGTTTTACCTGGTTACGAGGCGAGGAAGTCATC
CAACTCAGGTCTAAAAAGTATTCTTTATTGGGTGGAAGCAACTTGCTTATCTCCAATGTGACAGATGATGACAGTGGAATGTATACCTGTGTTGTCACATATAAA
AATGAGAATATTAGTGCCTCTGCAGAGCTCACAGTCTTGGTTCCGCCATGGTTTTTAAATCATCCTTCCAACCTGTATGCCTATGAAAGCATGGATATTGAGTTT
GAATGTACAGTCTCTGGAAAGCCTGTGCCCACTGTGAATTGGATGAAGAATGGAGATGTGGTCATTCCTAGTGATTATTTTCAGATAGTGGGAGGAAGCAACTTA
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>DCC|1630|protein
MENSLRCVWVPKLAFVLFGASLFSAHLQVTGFQIKAFTALRFLSEPSDAVTMRGGNVLLDCSAESDRGVPVIKWKKDGIHLALGMDERKQQLSNGSLLIQNILHS
RHHKPDEGLYQCEASLGDSGSIISRTAKVAVAGPLRFLSQTESVTAFMGDTVLLKCEVIGEPMPTIHWQKNQQDLTPIPGDSRVVVLPSGALQISRLQPGDIGIY
RCSARNPASSRTGNEAEVRILSDPGLHRQLYFLQRPSNVVAIEGKDAVLECCVSGYPPPSFTWLRGEEVIQLRSKKYSLLGGSNLLISNVTDDDSGMYTCVVTYK
NENISASAELTVLVPPWFLNHPSNLYAYESMDIEFECTVSGKPVPTVNWMKNGDVVIPSDYFQIVGGSNLRILGVVKSDEGFYQCVAENEAGNAQTSAQLIVPKP
AIPSSSVLPSAPRDVVPVLVSSRFVRLSWRPPAEAKGNIQTFTVFFSREGDNRERALNTTQPGSLQLTVGNLKPEAMYTFRVVAYNEWGPGESSQPIKVATQPEL
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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 1 (1) 0 (1) 0 (0) 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
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Ma, 2009_1 Discovery Illumina's Human 1M v1 Beadchip 438 -
(-)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Doan RN, 2016 - ---ASD - - - - -
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