Evidence Details for CUX2
Basic Information Top
| Gene Symbol: | CUX2 ( CDP2,CUTL2 ) |
|---|---|
| Gene Full Name: | cut-like homeobox 2 |
| Band: | 12q24.11-q24.12 |
| Quick Links | Entrez ID:23316; OMIM: 610648; Uniprot ID:CUX2_HUMAN; ENSEMBL ID: ENSG00000111249; HGNC ID: 19347 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CUX2|23316|nucleotide
ATGGCCGCCAATGTGGGATCGATGTTTCAATATTGGAAGCGATTTGATCTACGGCGACTCCAGAAGGAGCTTAATTCCGTCGCTTCTGAGCTGTCTGCACGGCAG
GAGGAGAGTGAACATTCTCATAAACATTTAATTGAACTCCGCCGGGAATTTAAGAAAAATGTACCTGAGGAAATCAGAGAGATGGTGGCTCCTGTATTAAAAAGC
TTCCAAGCCGAGGTGGTGGCCCTTAGTAAGAGAAGTCAGGAGGCGGAGGCTGCTTTTCTGAGTGTTTACAAGCAATTAATTGAAGCACCAGACCCCGTGCCTGTG
TTTGAGGCGGCACGCAGCCTAGACGACAGACTGCAGCCCCCCAGCTTTGACCCCAGTGGGCAGCCCCGGCGAGACCTCCACACTTCGTGGAAGAGGAACCCCGAG
CTCCTCAGCCCCAAAGAGCAGAGAGAGGGGACGTCGCCTGCCGGGCCCACGCTGACCGAGGGAAGCCGCCTCCCAGGCATTCCCGGGAAAGCCCTCCTGACAGAA
ACCTTGCTGCAGAGAAATGAGGCGGAAAAACAAAAGGGCCTTCAAGAAGTACAGATCACTTTGGCGGCCAGACTGGGGGAGGCAGAGGAGAAAATCAAAGTCCTA
CATTCAGCGCTAAAGGCTACGCAGGCAGAGCTGCTAGAGCTGCGGCGGAAGTACGACGAGGAGGCAGCATCCAAGGCAGATGAAGTCGGCCTGATCATGACCAAC
CTGGAGAAAGCTAATCAGCGAGCTGAGGCTGCCCAGCGGGAGGTGGAAAGTCTCCGGGAACAGCTGGCCTCTGTCAACAGCTCCATCCGCCTGGCTTGCTGCTCT
CCCCAGGGGCCCAGTGGGGATAAGGTGAACTTCACTCTGTGCTCGGGCCCTCGGCTGGAGGCCGCGCTGGCCTCCAAGGACAGGGAGATCCTGCGGCTGCTGAAG
GACGTGCAGCACCTCCAGAGCTCACTGCAGGAGCTGGAGGAGGCATCCGCCAACCAGATCGCCGACCTGGAGCGGCAGCTCACGGCCAAGTCCGAGGCCATAGAA
AAGCTGGAAGAGAAGCTCCAGGCCCAGTCTGACTATGAGGAAATTAAAACGGAGCTGAGCATCCTGAAAGCCATGAAGCTGGCCTCCAGCACCTGCAGCCTCCCC
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ATGGCCGCCAATGTGGGATCGATGTTTCAATATTGGAAGCGATTTGATCTACGGCGACTCCAGAAGGAGCTTAATTCCGTCGCTTCTGAGCTGTCTGCACGGCAG
GAGGAGAGTGAACATTCTCATAAACATTTAATTGAACTCCGCCGGGAATTTAAGAAAAATGTACCTGAGGAAATCAGAGAGATGGTGGCTCCTGTATTAAAAAGC
TTCCAAGCCGAGGTGGTGGCCCTTAGTAAGAGAAGTCAGGAGGCGGAGGCTGCTTTTCTGAGTGTTTACAAGCAATTAATTGAAGCACCAGACCCCGTGCCTGTG
TTTGAGGCGGCACGCAGCCTAGACGACAGACTGCAGCCCCCCAGCTTTGACCCCAGTGGGCAGCCCCGGCGAGACCTCCACACTTCGTGGAAGAGGAACCCCGAG
CTCCTCAGCCCCAAAGAGCAGAGAGAGGGGACGTCGCCTGCCGGGCCCACGCTGACCGAGGGAAGCCGCCTCCCAGGCATTCCCGGGAAAGCCCTCCTGACAGAA
ACCTTGCTGCAGAGAAATGAGGCGGAAAAACAAAAGGGCCTTCAAGAAGTACAGATCACTTTGGCGGCCAGACTGGGGGAGGCAGAGGAGAAAATCAAAGTCCTA
CATTCAGCGCTAAAGGCTACGCAGGCAGAGCTGCTAGAGCTGCGGCGGAAGTACGACGAGGAGGCAGCATCCAAGGCAGATGAAGTCGGCCTGATCATGACCAAC
CTGGAGAAAGCTAATCAGCGAGCTGAGGCTGCCCAGCGGGAGGTGGAAAGTCTCCGGGAACAGCTGGCCTCTGTCAACAGCTCCATCCGCCTGGCTTGCTGCTCT
CCCCAGGGGCCCAGTGGGGATAAGGTGAACTTCACTCTGTGCTCGGGCCCTCGGCTGGAGGCCGCGCTGGCCTCCAAGGACAGGGAGATCCTGCGGCTGCTGAAG
GACGTGCAGCACCTCCAGAGCTCACTGCAGGAGCTGGAGGAGGCATCCGCCAACCAGATCGCCGACCTGGAGCGGCAGCTCACGGCCAAGTCCGAGGCCATAGAA
AAGCTGGAAGAGAAGCTCCAGGCCCAGTCTGACTATGAGGAAATTAAAACGGAGCTGAGCATCCTGAAAGCCATGAAGCTGGCCTCCAGCACCTGCAGCCTCCCC
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>CUX2|23316|protein
MAANVGSMFQYWKRFDLRRLQKELNSVASELSARQEESEHSHKHLIELRREFKKNVPEEIREMVAPVLKSFQAEVVALSKRSQEAEAAFLSVYKQLIEAPDPVPV
FEAARSLDDRLQPPSFDPSGQPRRDLHTSWKRNPELLSPKEQREGTSPAGPTLTEGSRLPGIPGKALLTETLLQRNEAEKQKGLQEVQITLAARLGEAEEKIKVL
HSALKATQAELLELRRKYDEEAASKADEVGLIMTNLEKANQRAEAAQREVESLREQLASVNSSIRLACCSPQGPSGDKVNFTLCSGPRLEAALASKDREILRLLK
DVQHLQSSLQELEEASANQIADLERQLTAKSEAIEKLEEKLQAQSDYEEIKTELSILKAMKLASSTCSLPQGMAKPEDSLLIAKEAFFPTQKFLLEKPSLLASPE
EDPSEDDSIKDSLGTEQSYPSPQQLPPPPGPEDPLSPSPGQPLLGPSLGPDGTRTFSLSPFPSLASGERLMMPPAAFKGEAGGLLVFPPAFYGAKPPTAPATPAP
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MAANVGSMFQYWKRFDLRRLQKELNSVASELSARQEESEHSHKHLIELRREFKKNVPEEIREMVAPVLKSFQAEVVALSKRSQEAEAAFLSVYKQLIEAPDPVPV
FEAARSLDDRLQPPSFDPSGQPRRDLHTSWKRNPELLSPKEQREGTSPAGPTLTEGSRLPGIPGKALLTETLLQRNEAEKQKGLQEVQITLAARLGEAEEKIKVL
HSALKATQAELLELRRKYDEEAASKADEVGLIMTNLEKANQRAEAAQREVESLREQLASVNSSIRLACCSPQGPSGDKVNFTLCSGPRLEAALASKDREILRLLK
DVQHLQSSLQELEEASANQIADLERQLTAKSEAIEKLEEKLQAQSDYEEIKTELSILKAMKLASSTCSLPQGMAKPEDSLLIAKEAFFPTQKFLLEKPSLLASPE
EDPSEDDSIKDSLGTEQSYPSPQQLPPPPGPEDPLSPSPGQPLLGPSLGPDGTRTFSLSPFPSLASGERLMMPPAAFKGEAGGLLVFPPAFYGAKPPTAPATPAP
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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 | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (4) |
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 | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ![]() | ![]() | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
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 microarray | ![]() | ![]() | ASD | 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 |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Geisheker MR, 2017 | - | - | 36 | Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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