AutismKB 2.0

Evidence Details for CENPC1


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Basic Information Top
Gene Symbol:CENPC1 ( CENP-C,CENPC,MIF2,hcp-4 )
Gene Full Name: centromere protein C 1
Band: 4q13.2
Quick LinksEntrez ID:1060; OMIM: 117141; Uniprot ID:CENPC_HUMAN; ENSEMBL ID: ENSG00000145241; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CENPC1|1060|nucleotide
ATGGCTGCGTCCGGTCTGGATCATCTCAAAAATGGCTACAGAAGAAGATTTTGTCGACCTTCCAGGGCACGTGACATTAACACAGAGCAAGGCCAGAATGTTCTG
GAAATCTTACAAGACTGTTTTGAAGAAAAAAGTCTTGCCAATGATTTTAGTACAAATTCTACAAAATCAGTGCCTAATTCAACACGCAAAATAAAAGACACTTGT
ATTCAGTCACCAAGCAAAGAGTGCCAGAAATCACATCCAAAGTCAGTTCCAGTTTCTTCAAAGAAGAAAGAAGCCTCTCTACAGTTTGTTGTAGAACCAAGTGAA
GCCACAAACAGATCAGTTCAGGCCCATGAAGTTCATCAGAAAATTCTGGCAACTGATGTTAGTTCCAAAAATACACCTGACTCGAAAAAAATATCAAGTAGAAAC
ATAAATGATCATCACAGTGAAGCTGATGAAGAATTTTACTTATCCGTTGGCTCACCTTCTGTTCTTTTGGATGCAAAAACATCTGTATCACAAAATGTTATTCCA
TCTAGTGCCCAAAAGAGAGAGACTTACACTTTTGAAAATTCAGTAAATATGCTGCCTTCAAGTACAGAGGTTTCAGTTAAAACCAAAAAAAGGTTAAACTTTGAT
GATAAAGTTATGTTAAAGAAAATAGAAATAGATAATAAAGTATCAGATGAAGAGGATAAAACATCGGAAGGACAAGAAAGAAAACCATCAGGATCATCTCAGAAT
AGAATACGAGATTCAGAATATGAAATTCAACGACAAGCTAAAAAAAGTTTTTCAACATTGTTTTTAGAAACAGTAAAACGAAAAAGTGAATCCAGTCCCATTGTT
AGGCATGCGGCAACTGCTCCACCTCATTCGTGTCCTCCCGATGATACGAAGTTGATAGAGGATGAATTTATAATTGATGAGTCGGATCAAAGTTTTGCCAGTAGA
TCTTGGATTACAATACCAAGAAAGGCAGGGTCTCTGAAACAACGCACAATATCCCCGGCTGAGAGCACTGCACTCCTTCAAGGTAGAAAGTCAAGAGAAAAGCAT
CATAATATATTACCTAAGACTTTGGCAAATGACAAACATTCCCATAAACCTCACCCAGTAGAGACATCTCAGCCCTCTGATAAAACAGTACTGGATACAAGTTAT
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>CENPC1|1060|protein
MAASGLDHLKNGYRRRFCRPSRARDINTEQGQNVLEILQDCFEEKSLANDFSTNSTKSVPNSTRKIKDTCIQSPSKECQKSHPKSVPVSSKKKEASLQFVVEPSE
ATNRSVQAHEVHQKILATDVSSKNTPDSKKISSRNINDHHSEADEEFYLSVGSPSVLLDAKTSVSQNVIPSSAQKRETYTFENSVNMLPSSTEVSVKTKKRLNFD
DKVMLKKIEIDNKVSDEEDKTSEGQERKPSGSSQNRIRDSEYEIQRQAKKSFSTLFLETVKRKSESSPIVRHAATAPPHSCPPDDTKLIEDEFIIDESDQSFASR
SWITIPRKAGSLKQRTISPAESTALLQGRKSREKHHNILPKTLANDKHSHKPHPVETSQPSDKTVLDTSYALIGETVNNYRSTKYEMYSKNAEKPSRSKRTIKQK
QRRKFMAKPAEEQLDVGQSKDENIHTSHITQDEFQRNSDRNMEEHEEMGNDCVSKKQMPPVGSKKSSTRKDKEESKKKRFSSESKNKLVPEEVTSTVTKSRRISR
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Weiss, 2009_2 Replication Affymetrix 5.0/500K arrays, Taqman assays 2073 -
(-)
ASD -
-
-
-
MIXED/OTHERS
Weiss, 2009_1 Discovery Affymetrix 5.0 and 500K arrays 1038 -
(-)
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
Linkage Studies Top