AutismKB 2.0

Evidence Details for CUL1


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Basic Information Top
Gene Symbol:CUL1 ( MGC149834,MGC149835 )
Gene Full Name: cullin 1
Band: 7q36.1
Quick LinksEntrez ID:8454; OMIM: 603134; Uniprot ID:CUL1_HUMAN; ENSEMBL ID: ENSG00000055130; HGNC ID: 2551
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CUL1|8454|nucleotide
ATGTCGTCAACCCGGAGCCAGAACCCCCACGGCCTGAAGCAGATTGGCCTGGACCAGATCTGGGACGACCTCAGAGCCGGCATCCAGCAGGTGTACACACGGCAG
AGCATGGCCAAGTCCAGATATATGGAGCTCTACACTCATGTTTATAACTACTGTACTAGTGTTCACCAGTCAAACCAAGCACGAGGAGCTGGAGTTCCTCCTTCT
AAGTCGAAAAAGGGGCAGACACCTGGAGGAGCTCAGTTTGTTGGCCTGGAATTATATAAACGACTTAAGGAATTTTTGAAGAATTACTTGACAAATCTTCTTAAG
GATGGAGAAGATTTGATGGATGAGAGTGTACTGAAATTCTACACTCAACAATGGGAAGATTATCGATTTTCAAGCAAAGTGCTGAATGGAATTTGTGCCTACCTC
AATAGACATTGGGTTCGCCGTGAATGTGACGAAGGACGAAAAGGAATATATGAAATCTATTCGCTTGCATTGGTGACTTGGAGAGACTGTCTGTTCAGGCCACTG
AATAAACAGGTAACAAATGCTGTTTTAAAGCTGATTGAAAAGGAAAGGAATGGTGAAACCATCAATACAAGATTGATTAGTGGAGTTGTACAGTCTTACGTGGAA
TTGGGGCTGAATGAAGATGATGCATTTGCAAAGGGCCCTACGTTAACAGTGTATAAAGAATCCTTTGAATCTCAATTTTTGGCTGACACAGAGAGATTTTATACC
AGAGAGAGTACTGAATTCTTGCAGCAGAACCCAGTTACTGAATATATGAAAAAGGCAGAGGCTCGTCTGCTTGAGGAACAACGAAGAGTTCAGGTTTACCTTCAT
GAAAGCACACAAGATGAATTAGCAAGGAAATGTGAACAAGTCCTCATTGAAAAACACTTGGAAATTTTCCACACAGAATTTCAGAATTTATTGGATGCTGACAAA
AATGAAGATTTGGGACGCATGTATAATCTTGTATCTAGAATCCAGGATGGCCTAGGAGAATTGAAAAAACTGTTGGAGACACACATTCATAATCAGGGTCTTGCA
GCCATTGAAAAGTGTGGAGAAGCTGCTTTAAATGACCCCAAAATGTATGTACAGACAGTGCTTGATGTTCATAAAAAATACAATGCCCTGGTAATGTCTGCATTC
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>CUL1|8454|protein
MSSTRSQNPHGLKQIGLDQIWDDLRAGIQQVYTRQSMAKSRYMELYTHVYNYCTSVHQSNQARGAGVPPSKSKKGQTPGGAQFVGLELYKRLKEFLKNYLTNLLK
DGEDLMDESVLKFYTQQWEDYRFSSKVLNGICAYLNRHWVRRECDEGRKGIYEIYSLALVTWRDCLFRPLNKQVTNAVLKLIEKERNGETINTRLISGVVQSYVE
LGLNEDDAFAKGPTLTVYKESFESQFLADTERFYTRESTEFLQQNPVTEYMKKAEARLLEEQRRVQVYLHESTQDELARKCEQVLIEKHLEIFHTEFQNLLDADK
NEDLGRMYNLVSRIQDGLGELKKLLETHIHNQGLAAIEKCGEAALNDPKMYVQTVLDVHKKYNALVMSAFNNDAGFVAALDKACGRFINNNAVTKMAQSSSKSPE
LLARYCDSLLKKSSKNPEEAELEDTLNQVMVVFKYIEDKDVFQKFYAKMLAKRLVHQNSASDDAEASMISKLKQACGFEYTSKLQRMFQDIGVSKDLNEQFKKHL
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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) 1 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Molloy, 2005 USA microsatellite-based genomic screenASD 34 - 34 - - - -
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
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