Evidence Details for CUX1
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 Links | Entrez 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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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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MAANVGSMFQYWKRFDLQQLQRELDATATVLANRQDESEQSRKRLIEQSREFKKNTPEDLRKQVAPLLKSFQGEIDALSKRSKEAEAAFLNVYKRLIDVPDPVPA
LDLGQQLQLKVQRLHDIETENQKLRETLEEYNKEFAEVKNQEVTIKALKEKIREYEQTLKNQAETIALEKEQKLQNDFAEKERKLQETQMSTTSKLEEAEHKVQS
LQTALEKTRTELFDLKTKYDEETTAKADEIEMIMTDLERANQRAEVAQREAETLREQLSSANHSLQLASQIQKAPDVEQAIEVLTRSSLEVELAAKEREIAQLVE
DVQRLQASLTKLRENSASQISQLEQQLSAKNSTLKQLEEKLKGQADYEEVKKELNILKSMEFAPSEGAGTQDAAKPLEVLLLEKNRSLQSENAALRISNSDLSGS
ARRKGKDQPESRRPGSLPAPPPSQLPRNPGEQASNTNGTHQFSPAGLSQDFFSSSLASPSLPLASTGKFALNSLLQRQLMQSFYSKAMQEAGSTSMIFSTGPYST
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 screen | ![]() | ![]() | PDD | 152 | - | 152 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Bonora, 2005_1 | IMGSAC | ABI377 sequencing machines | 207 | 438 (20.32%) | ![]() | ![]() | ASD | - - |
- - | |
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 | |
| ||||||||||||
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
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