AutismKB 2.0

Evidence Details for MCC


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MCC ( DKFZp762O1615,FLJ38893,FLJ46755,MCC1 )
Gene Full Name: mutated in colorectal cancers
Band: 5q22.2
Quick LinksEntrez ID:4163; OMIM: 159350; Uniprot ID:CRCM_HUMAN; ENSEMBL ID: ENSG00000171444; HGNC ID: 6935
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MCC|4163|nucleotide
ATGATGGCGGCCGCGGCGGCAGCGGCTGCGGGGAGCTCCAGCAGCGGCGGCGGCGGCGGCGGCAGCGGCAGCAGCAGCAGCAGCAGCGACACGTCCAGCACCGGC
GAGGAGGAGAGGATGCGGCGCCTCTTCCAGACGTGCGACGGCGACGGGGACGGATACATCAGCAGAAATGACTTGCTAATGGTCTGTCGCCAGCTGAATATGGAA
GAGTCTGTGGCTGAGATCATGAACCAGTTGGGAGCAGATGAAAATGGGAAGATTTCCTTTCAGGATTTCACAAGATGCCGCATGCAGCTTGTTCGAGAAATTAGG
AAGGAGGAAGTAGATCTTTCTGCAAAGTCAGACAACTCCTGTACAAAGAAGCTGAGGGATAGAATTGCTTCCTGGCCCACGAGCAGTGACAACAGTTTGGGTGCC
TTATCAGCAGCCAGGGAGAGCTGGGAATACGACTCTGGTGCCAGGGACCTCCAGAGCCCGGATGTGCAGAGCCAGTCAGCCCTCCAGAAGCTGCTCGAGTATGGC
GGAAGCTCTTTGCATCAGCAGGCTGCTCTCCACAAACTGCTCACACAGTCCCCGCACATTGGCAACTCTGTAGGAGGAAGCTATCTAGAGCTGGCCAACACACTC
CATTCAGCAGCCCTGGCATCACTAAAGGGAGATATAGTGGAACTTAATAAACGTCTCCAGCAAACAGAGAGGGAACGGGACCTTCTGGAAAAGAAATTGGCCAAG
GCACAGTGCGAGCAGTCCCACCTCATGAGAGAGCATGAGGATGTCCAGGAGCGAACGACACTTCGCTATGAGGAACGCATCACAGAGCTCCACAGCGTCATTGCG
GAGCTCAACAAGAAGATAGACCGTCTGCAAGGCACCACCATCAGGGAGGAAGATGAGTACTCAGAACTGCGATCAGAACTCAGCCAGAGCCAACACGAGGTCAAC
GAGGACTCTCGAAGCATGGACCAAGACCAGACCTCTGTCTCTATCCCCGAAAACCAGTCTACCATGGTTACTGCTGACATGGACAACTGCAGTGACCTGAACTCA
GAACTGCAGAGGGTGCTGACAGGGCTGGAGAATGTTGTCTGCGGCAGGAAGAAGAGCAGCTGCAGCCTCTCCGTGGCCGAGGTGGACAGGCACATTGAGCAGCTC
Show »

>MCC|4163|protein
MMAAAAAAAAGSSSSGGGGGGSGSSSSSSDTSSTGEEERMRRLFQTCDGDGDGYISRNDLLMVCRQLNMEESVAEIMNQLGADENGKISFQDFTRCRMQLVREIR
KEEVDLSAKSDNSCTKKLRDRIASWPTSSDNSLGALSAARESWEYDSGARDLQSPDVQSQSALQKLLEYGGSSLHQQAALHKLLTQSPHIGNSVGGSYLELANTL
HSAALASLKGDIVELNKRLQQTERERDLLEKKLAKAQCEQSHLMREHEDVQERTTLRYEERITELHSVIAELNKKIDRLQGTTIREEDEYSELRSELSQSQHEVN
EDSRSMDQDQTSVSIPENQSTMVTADMDNCSDLNSELQRVLTGLENVVCGRKKSSCSLSVAEVDRHIEQLTTASEHCDLAIKTVEEIEGVLGRDLYPNLAEERSR
WEKELAGLREENESLTAMLCSKEEELNRTKATMNAIREERDRLRRRVRELQTRLQSVQATGPSSPGRLTSTNRPINPSTGELSTSSSSNDIPIAKIAERVKLSKT
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top