AutismKB 2.0

Evidence Details for CDC7


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Basic Information Top
Gene Symbol:CDC7 ( CDC7L1,HsCDC7,Hsk1,MGC117361,MGC126237,MGC126238,huCDC7 )
Gene Full Name: cell division cycle 7 homolog (S. cerevisiae)
Band: 1p22.1
Quick LinksEntrez ID:8317; OMIM: 603311; Uniprot ID:CDC7_HUMAN; ENSEMBL ID: ENSG00000097046; HGNC ID: 1745
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDC7|8317|nucleotide
ATGGAGGCGTCTTTGGGGATTCAGATGGATGAGCCAATGGCTTTTTCTCCCCAGCGTGACCGGTTTCAGGCTGAAGGCTCTTTAAAAAAAAACGAGCAGAATTTT
AAACTTGCAGGTGTTAAAAAAGATATTGAGAAGCTTTATGAAGCTGTACCACAGCTTAGTAATGTGTTTAAGATTGAGGACAAAATTGGAGAAGGCACTTTCAGC
TCTGTTTATTTGGCCACAGCACAGTTACAAGTAGGACCTGAAGAGAAAATTGCTCTAAAACACTTGATTCCAACAAGTCATCCTATAAGAATTGCAGCTGAACTT
CAGTGCCTAACAGTGGCTGGGGGGCAAGATAATGTCATGGGAGTTAAATACTGCTTTAGGAAGAATGATCATGTAGTTATTGCTATGCCATATCTGGAGCATGAG
TCGTTTTTGGACATTCTGAATTCTCTTTCCTTTCAAGAAGTACGGGAATATATGCTTAATCTGTTCAAAGCTTTGAAACGCATTCATCAGTTTGGTATTGTTCAC
CGTGATGTTAAGCCCAGCAATTTTTTATATAATAGGCGCCTGAAAAAGTATGCCTTGGTAGACTTTGGTTTGGCCCAAGGAACCCATGATACGAAAATAGAGCTT
CTTAAATTTGTCCAGTCTGAAGCTCAGCAGGAAAGGTGTTCACAAAACAAATCCCACATAATCACAGGAAACAAGATTCCACTGAGTGGCCCAGTACCTAAGGAG
CTGGATCAGCAGTCCACCACAAAAGCTTCTGTTAAAAGACCCTACACAAATGCACAAATTCAGATTAAACAAGGAAAAGACGGAAAGGAGGGATCTGTAGGCCTT
TCTGTCCAGCGCTCTGTTTTTGGAGAAAGAAATTTCAATATACACAGCTCCATTTCACATGAGAGCCCTGCAGTGAAACTCATGAAGCAGTCAAAGACTGTGGAT
GTACTGTCTAGAAAGTTAGCAACAAAAAAGAAGGCTATTTCTACAAAAGTTATGAATAGTGCTGTGATGAGGAAAACTGCCAGTTCTTGCCCAGCTAGCCTGACC
TGTGACTGCTATGCAACAGATAAAGTTTGTAGTATTTGCCTTTCAAGGCGTCAGCAGGTTGCCCCTAGGGCAGGTACACCAGGATTCAGAGCACCAGAGGTCTTG
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>CDC7|8317|protein
MEASLGIQMDEPMAFSPQRDRFQAEGSLKKNEQNFKLAGVKKDIEKLYEAVPQLSNVFKIEDKIGEGTFSSVYLATAQLQVGPEEKIALKHLIPTSHPIRIAAEL
QCLTVAGGQDNVMGVKYCFRKNDHVVIAMPYLEHESFLDILNSLSFQEVREYMLNLFKALKRIHQFGIVHRDVKPSNFLYNRRLKKYALVDFGLAQGTHDTKIEL
LKFVQSEAQQERCSQNKSHIITGNKIPLSGPVPKELDQQSTTKASVKRPYTNAQIQIKQGKDGKEGSVGLSVQRSVFGERNFNIHSSISHESPAVKLMKQSKTVD
VLSRKLATKKKAISTKVMNSAVMRKTASSCPASLTCDCYATDKVCSICLSRRQQVAPRAGTPGFRAPEVLTKCPNQTTAIDMWSAGVIFLSLLSGRYPFYKASDD
LTALAQIMTIRGSRETIQAAKTFGKSILCSKEVPAQDLRKLCERLRGMDSSTPKLTSDIQGHASHQPAISEKTDHKASCLVQTPPGQYSGNSFKKGDSNSCEHCF
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
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
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Turner TN, 2017 - Illumina X Ten --- 476 476 - 2064 Sanger sequencing
Low Scale Gene Studies Top

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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