AutismKB 2.0

Evidence Details for CUX1


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Basic Information Top
Gene Symbol:CUX1 ( CASP,CDP,CDP/Cut,CDP1,COY1,CUTL1,CUX,Clox,Cux/CDP,GOLIM6,Nbla10317,p100,p110,p200,p75 )
Gene Full Name: cut-like homeobox 1
Band: 7q22.1
Quick LinksEntrez ID:1523; OMIM: 116896; Uniprot ID:CASP_HUMAN; ENSEMBL ID: ENSG00000160967; HGNC ID: 2557
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CUX1|1523|nucleotide
ATGGCGGCCAATGTGGGATCGATGTTTCAATATTGGAAGCGCTTTGATTTACAGCAGCTGCAGAGAGAACTCGATGCCACCGCAACGGTATTGGCGAACCGGCAG
GATGAAAGTGAGCAGTCCAGAAAGCGGCTTATCGAACAGAGCCGGGAGTTCAAGAAGAACACTCCAGAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGT
TTCCAAGGAGAGATTGATGCACTGAGTAAAAGAAGCAAGGAAGCTGAAGCAGCTTTCTTGAATGTCTACAAAAGATTGATTGACGTCCCAGATCCCGTACCAGCT
TTGGATCTCGGACAGCAACTCCAGCTCAAAGTGCAGCGCCTGCACGATATTGAAACAGAGAACCAGAAACTTAGGGAAACTCTGGAAGAATACAACAAGGAATTT
GCTGAAGTGAAAAATCAAGAGGTTACGATAAAAGCACTTAAAGAGAAAATCCGAGAATATGAACAGACACTGAAGAACCAAGCCGAAACCATAGCTCTTGAGAAG
GAACAGAAGTTACAGAATGACTTTGCAGAAAAGGAGAGAAAGCTGCAGGAGACACAGATGTCCACCACCTCAAAGCTGGAGGAAGCTGAGCATAAGGTTCAGAGC
CTACAAACAGCCCTGGAAAAAACTCGAACAGAATTATTTGACCTGAAAACCAAATACGATGAAGAAACTACTGCAAAGGCCGACGAGATTGAAATGATCATGACG
GACCTTGAAAGGGCAAACCAGAGGGCAGAGGTGGCTCAGAGAGAGGCGGAGACCTTAAGGGAACAGCTCTCATCGGCCAATCACTCCCTCCAGCTGGCCTCACAG
ATCCAGAAGGCACCAGACGTGGAGCAGGCCATAGAGGTGCTGACCCGCTCCAGCCTAGAAGTTGAGTTGGCCGCCAAGGAGCGGGAGATCGCACAGCTGGTGGAG
GACGTGCAGAGACTCCAGGCCAGCCTCACCAAGCTGCGGGAGAATTCGGCCAGCCAGATCTCACAGCTTGAGCAGCAGCTGAGCGCCAAAAACAGCACACTCAAA
CAACTGGAAGAAAAACTCAAAGGCCAGGCTGACTATGAAGAGGTGAAGAAAGAGCTGAACATTCTGAAGTCCATGGAGTTTGCACCGTCCGAGGGCGCTGGGACA
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>CUX1|1523|protein
MAANVGSMFQYWKRFDLQQLQRELDATATVLANRQDESEQSRKRLIEQSREFKKNTPEDLRKQVAPLLKSFQGEIDALSKRSKEAEAAFLNVYKRLIDVPDPVPA
LDLGQQLQLKVQRLHDIETENQKLRETLEEYNKEFAEVKNQEVTIKALKEKIREYEQTLKNQAETIALEKEQKLQNDFAEKERKLQETQMSTTSKLEEAEHKVQS
LQTALEKTRTELFDLKTKYDEETTAKADEIEMIMTDLERANQRAEVAQREAETLREQLSSANHSLQLASQIQKAPDVEQAIEVLTRSSLEVELAAKEREIAQLVE
DVQRLQASLTKLRENSASQISQLEQQLSAKNSTLKQLEEKLKGQADYEEVKKELNILKSMEFAPSEGAGTQDAAKPLEVLLLEKNRSLQSENAALRISNSDLSGS
ARRKGKDQPESRRPGSLPAPPPSQLPRNPGEQASNTNGTHQFSPAGLSQDFFSSSLASPSLPLASTGKFALNSLLQRQLMQSFYSKAMQEAGSTSMIFSTGPYST
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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 1 (2) 0 (0) 1 (1) 0 (1) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 7 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Maestrini, 2009_2 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 127 127
(-)
ASD -
-
-
-
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)
MIXED/OTHERS
Liu X, 2016_2 replication TaqMan 1409
(-)
ASD -
-
- 184
(-)
-
-
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.17928 Up 0.45437
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2278636
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
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

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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