AutismKB 2.0

Evidence Details for MCM7


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Basic Information Top
Gene Symbol:MCM7 ( CDC47,MCM2,P1.1-MCM3,P1CDC47,P85MCM,PNAS146 )
Gene Full Name: minichromosome maintenance complex component 7
Band: 7q22.1
Quick LinksEntrez ID:4176; OMIM: 600592; Uniprot ID:MCM7_HUMAN; ENSEMBL ID: ENSG00000166508; HGNC ID: 6950
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MCM7|4176|nucleotide
ATGGCACTGAAGGACTACGCGCTAGAGAAGGAAAAGGTTAAGAAGTTCTTACAAGAGTTCTACCAGGATGATGAACTCGGGAAGAAGCAGTTCAAGTATGGGAAC
CAGTTGGTTCGGCTGGCTCATCGGGAACAGGTGGCTCTGTATGTGGACCTGGACGACGTAGCCGAGGATGACCCCGAGTTGGTGGACTCAATTTGTGAGAATGCC
AGGCGCTACGCGAAGCTCTTTGCTGATGCCGTACAAGAGCTGCTGCCTCAGTACAAGGAGAGGGAAGTGGTAAATAAAGATGTCCTGGACGTTTACATTGAGCAT
CGGCTAATGATGGAGCAGCGGAGTCGGGACCCTGGGATGGTCCGAAGCCCCCAGAACCAGTACCCTGCTGAACTCATGCGCAGATTTGAGCTGTATTTTCAAGGC
CCTAGCAGCAACAAGCCTCGTGTGATCCGGGAAGTGCGGGCTGACTCTGTGGGGAAGTTGGTAACTGTGCGTGGAATCGTCACTCGTGTCTCTGAAGTCAAACCC
AAGATGGTGGTGGCCACTTACACTTGTGACCAGTGTGGGGCAGAGACCTACCAGCCGATCCAGTCTCCCACTTTCATGCCTCTGATCATGTGCCCAAGCCAGGAG
TGCCAAACCAACCGCTCAGGAGGGCGGCTGTATCTGCAGACACGGGGCTCCAGATTCATCAAATTCCAGGAGATGAAGATGCAAGAACATAGTGATCAGGTGCCT
GTGGGAAATATCCCTCGTAGTATCACGGTGCTGGTAGAAGGAGAGAACACAAGGATTGCCCAGCCTGGAGACCACGTCAGCGTCACTGGTATTTTCTTGCCAATC
CTGCGCACTGGGTTCCGACAGGTGGTACAGGGTTTACTCTCAGAAACCTACCTGGAAGCCCATCGGATTGTGAAGATGAACAAGAGTGAGGATGATGAGTCTGGG
GCTGGAGAGCTCACCAGGGAGGAGCTGAGGCAAATTGCAGAGGAGGATTTCTACGAAAAGCTGGCAGCTTCAATCGCCCCAGAAATATACGGGCATGAAGATGTG
AAGAAGGCACTGCTGCTCCTGCTAGTCGGGGGTGTGGACCAGTCTCCTCGAGGCATGAAAATCCGGGGCAACATCAACATCTGTCTGATGGGGGATCCTGGTGTG
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>MCM7|4176|protein
MALKDYALEKEKVKKFLQEFYQDDELGKKQFKYGNQLVRLAHREQVALYVDLDDVAEDDPELVDSICENARRYAKLFADAVQELLPQYKEREVVNKDVLDVYIEH
RLMMEQRSRDPGMVRSPQNQYPAELMRRFELYFQGPSSNKPRVIREVRADSVGKLVTVRGIVTRVSEVKPKMVVATYTCDQCGAETYQPIQSPTFMPLIMCPSQE
CQTNRSGGRLYLQTRGSRFIKFQEMKMQEHSDQVPVGNIPRSITVLVEGENTRIAQPGDHVSVTGIFLPILRTGFRQVVQGLLSETYLEAHRIVKMNKSEDDESG
AGELTREELRQIAEEDFYEKLAASIAPEIYGHEDVKKALLLLLVGGVDQSPRGMKIRGNINICLMGDPGVAKSQLLSYIDRLAPRSQYTTGRGSSGVGLTAAVLR
DSVSGELTLEGGALVLADQGVCCIDEFDKMAEADRTAIHEVMEQQTISIAKAGILTTLNARCSILAAANPAYGRYNPRRSLEQNIQLPAALLSRFDLLWLIQDRP
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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 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 6 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Maestrini, 2009_5 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 127
(20.47%)
ASD -
-
- 188
(21.28%)
-
-
CNV Studies Top
Linkage Studies Top