AutismKB 2.0

Evidence Details for MCM4


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Basic Information Top
Gene Symbol:MCM4 ( CDC21,CDC54,MGC33310,P1-CDC21,hCdc21 )
Gene Full Name: minichromosome maintenance complex component 4
Band: 8q11.21
Quick LinksEntrez ID:4173; OMIM: 602638; Uniprot ID:MCM4_HUMAN; ENSEMBL ID: ENSG00000104738; HGNC ID: 6947
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MCM4|4173|nucleotide
ATGTCGTCCCCGGCGTCGACCCCGAGCCGCCGCGGCAGCCGGCGTGGAAGGGCCACCCCCGCCCAGACGCCTCGGAGTGAGGATGCCAGGTCATCTCCCTCTCAG
AGACGTAGAGGCGAGGATTCCACCTCCACGGGGGAGTTGCAGCCGATGCCAACCTCGCCTGGAGTGGACCTGCAGAGCCCTGCTGCGCAGGACGTGCTGTTTTCC
AGCCCTCCCCAAATGCATTCTTCAGCTATCCCTCTTGACTTTGATGTTAGTTCACCACTGACATACGGCACTCCCAGCTCTCGGGTAGAGGGAACCCCAAGAAGT
GGTGTTAGGGGCACACCTGTGAGACAGAGGCCTGACCTGGGCTCTGCACAGAAGGGCCTGCAAGTGGATCTGCAGTCTGACGGGGCAGCAGCAGAAGATATAGTG
GCAAGTGAGCAGTCTCTAGGCCAAAAACTTGTGATCTGGGGAACAGATGTAAATGTGGCAGCATGCAAAGAAAACTTTCAGAGATTTCTTCAGCGTTTTATTGAC
CCTCTGGCTAAAGAAGAAGAAAATGTTGGCATAGATATTACTGAACCTCTATACATGCAACGACTTGGGGAGATTAATGTTATTGGTGAGCCATTTTTAAATGTG
AACTGTGAACACATCAAATCATTTGACAAAAATTTGTACAGACAACTCATCTCTTACCCACAGGAAGTTATTCCAACTTTTGACATGGCTGTCAATGAAATCTTC
TTTGACCGTTACCCTGACTCAATCTTAGAACATCAGATTCAAGTAAGACCATTCAACGCATTGAAGACTAAGAATATGAGAAACCTGAATCCAGAAGACATTGAC
CAGCTCATCACCATCAGCGGCATGGTGATCAGGACATCCCAGCTGATTCCCGAGATGCAGGAGGCCTTCTTCCAGTGCCAAGTGTGTGCCCACACGACCCGGGTG
GAGATGGACCGCGGCCGCATTGCAGAGCCCAGTGTGTGCGGGCGCTGCCACACCACCCACAGCATGGCACTCATCCACAACCGCTCCCTCTTCTCTGACAAGCAG
ATGATCAAGCTTCAGGAGTCTCCGGAAGACATGCCTGCAGGGCAGACACCACACACAGTTATCCTGTTTGCTCACAATGATCTCGTTGACAAGGTCCAGCCTGGG
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>MCM4|4173|protein
MSSPASTPSRRGSRRGRATPAQTPRSEDARSSPSQRRRGEDSTSTGELQPMPTSPGVDLQSPAAQDVLFSSPPQMHSSAIPLDFDVSSPLTYGTPSSRVEGTPRS
GVRGTPVRQRPDLGSAQKGLQVDLQSDGAAAEDIVASEQSLGQKLVIWGTDVNVAACKENFQRFLQRFIDPLAKEEENVGIDITEPLYMQRLGEINVIGEPFLNV
NCEHIKSFDKNLYRQLISYPQEVIPTFDMAVNEIFFDRYPDSILEHQIQVRPFNALKTKNMRNLNPEDIDQLITISGMVIRTSQLIPEMQEAFFQCQVCAHTTRV
EMDRGRIAEPSVCGRCHTTHSMALIHNRSLFSDKQMIKLQESPEDMPAGQTPHTVILFAHNDLVDKVQPGDRVNVTGIYRAVPIRVNPRVSNVKSVYKTHIDVIH
YRKTDAKRLHGLDEEAEQKLFSEKRVELLKELSRKPDIYERLASALAPSIYEHEDIKKGILLQLFGGTRKDFSHTGRGKFRAEINILLCGDPGTSKSQLLQYVYN
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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