AutismKB 2.0

Evidence Details for CCNT1


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Basic Information Top
Gene Symbol:CCNT1 ( CCNT,CYCT1,HIVE1 )
Gene Full Name: cyclin T1
Band: 12q13.11-q13.12
Quick LinksEntrez ID:904; OMIM: 143055; Uniprot ID:CCNT1_HUMAN; ENSEMBL ID: ENSG00000129315; HGNC ID: 1599
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCNT1|904|nucleotide
ATGGAGGGAGAGAGGAAGAACAACAACAAACGGTGGTATTTCACTCGAGAACAGCTGGAAAATAGCCCATCCCGTCGTTTTGGCGTGGACCCAGATAAAGAACTT
TCTTATCGCCAGCAGGCGGCCAATCTGCTTCAGGACATGGGGCAGCGTCTTAACGTCTCACAATTGACTATCAACACTGCTATAGTATACATGCATCGATTCTAC
ATGATTCAGTCCTTCACACAGTTCCCTGGAAATTCTGTGGCTCCAGCAGCCTTGTTTCTAGCAGCTAAAGTGGAGGAGCAGCCCAAAAAATTGGAACATGTCATC
AAGGTAGCACATACTTGTCTCCATCCTCAGGAATCCCTTCCTGATACTAGAAGTGAGGCTTATTTGCAACAAGTTCAAGATCTGGTCATTTTAGAAAGCATAATT
TTGCAGACTTTAGGCTTTGAACTAACAATTGATCACCCACATACTCATGTAGTAAAGTGCACTCAACTTGTTCGAGCAAGCAAGGACTTAGCACAGACTTCTTAC
TTCATGGCAACCAACAGCCTGCATTTGACCACATTTAGCCTGCAGTACACACCTCCTGTGGTGGCCTGTGTCTGCATTCACCTGGCTTGCAAGTGGTCCAATTGG
GAGATCCCAGTCTCAACTGACGGGAAGCACTGGTGGGAGTATGTTGACGCCACTGTGACCTTGGAACTTTTAGATGAACTGACACATGAGTTTCTACAGATTTTG
GAGAAAACTCCCAACAGGCTCAAACGCATTTGGAATTGGAGGGCATGCGAGGCTGCCAAGAAAACAAAAGCAGATGACCGAGGAACAGATGAAAAGACTTCAGAG
CAGACAATCCTCAATATGATTTCCCAGAGCTCTTCAGACACAACCATTGCAGGTTTAATGAGCATGTCAACTTCTACCACAAGTGCAGTGCCTTCCCTGCCAGTC
TCCGAAGAGTCATCCAGCAACTTAACCAGTGTGGAGATGTTGCCGGGCAAGCGTTGGCTGTCCTCCCAACCTTCTTTCAAACTAGAACCTACTCAGGGTCATCGG
ACTAGTGAGAATTTAGCACTTACAGGAGTTGATCATTCCTTACCACAGGATGGTTCAAATGCATTTATTTCCCAGAAGCAGAATAGTAAGAGTGTGCCATCAGCT
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>CCNT1|904|protein
MEGERKNNNKRWYFTREQLENSPSRRFGVDPDKELSYRQQAANLLQDMGQRLNVSQLTINTAIVYMHRFYMIQSFTQFPGNSVAPAALFLAAKVEEQPKKLEHVI
KVAHTCLHPQESLPDTRSEAYLQQVQDLVILESIILQTLGFELTIDHPHTHVVKCTQLVRASKDLAQTSYFMATNSLHLTTFSLQYTPPVVACVCIHLACKWSNW
EIPVSTDGKHWWEYVDATVTLELLDELTHEFLQILEKTPNRLKRIWNWRACEAAKKTKADDRGTDEKTSEQTILNMISQSSSDTTIAGLMSMSTSTTSAVPSLPV
SEESSSNLTSVEMLPGKRWLSSQPSFKLEPTQGHRTSENLALTGVDHSLPQDGSNAFISQKQNSKSVPSAKVSLKEYRAKHAEELAAQKRQLENMEANVKSQYAY
AAQNLLSHHDSHSSVILKMPIEGSENPERPFLEKADKTALKMRIPVAGGDKAASSKPEEIKMRIKVHAAADKHNSVEDSVTKSREHKEKHKTHPSNHHHHHNHHS
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
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
Nilsson D, 2017 8 - 17 Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially
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