Evidence Details for DCX
Basic Information Top
| Gene Symbol: | DCX ( DBCN,DC,FLJ51296,LISX,SCLH,XLIS ) |
|---|---|
| Gene Full Name: | doublecortin |
| Band: | Xq23 |
| Quick Links | Entrez ID:1641; OMIM: 300121; Uniprot ID:DCX_HUMAN; ENSEMBL ID: ENSG00000077279; HGNC ID: 2714 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DCX|1641|nucleotide
ATGAAAACACTCCCCCTTCATAGTCATTGTACTGAAATGCAAAGACTGCTTCCTAAGCTGGAGATGCTAACCTTGGGTAGCTCCTTCTGTTCTCTTCAAGGGGAA
TTTTGTCAGGCTATGGATTCATTTACAACTGTTAGTCATGTGGGCATGTGTGAGGAAACAGATGCCAGTTTTAATGTATTTAGCCCGAAGTTCCAATTTGATAGG
AGCCACTGTCAGTCTCTGAGGTTCCACCAAAATATGGAACTTGATTTTGGACACTTTGACGAAAGAGATAAGACATCCAGGAACATGCGAGGCTCCCGGATGAAT
GGGTTGCCTAGCCCCACTCACAGCGCCCACTGTAGCTTCTACCGAACCAGAACCTTGCAGGCACTGAGTAATGAGAAGAAAGCCAAGAAGGTACGTTTCTACCGC
AATGGGGACCGCTACTTCAAGGGGATTGTGTACGCTGTGTCCTCTGACCGTTTTCGCAGCTTTGACGCCTTGCTGGCTGACCTGACGCGATCTCTGTCTGACAAC
ATCAACCTGCCTCAGGGAGTGCGTTACATTTACACCATTGATGGATCCAGGAAGATCGGAAGCATGGATGAACTGGAGGAAGGGGAAAGCTATGTCTGTTCCTCA
GACAACTTCTTTAAAAAGGTGGAGTACACCAAGAATGTCAATCCCAACTGGTCTGTCAACGTAAAAACATCTGCCAATATGAAAGCCCCCCAGTCCTTGGCTAGC
AGCAACAGTGCACAGGCCAGGGAGAACAAGGACTTTGTGCGCCCCAAGCTGGTTACCATCATCCGCAGTGGGGTGAAGCCTCGGAAGGCTGTGCGTGTGCTTCTG
AACAAGAAGACAGCCCACTCTTTTGAGCAAGTCCTCACTGATATCACAGAAGCCATCAAACTGGAGACCGGGGTTGTCAAAAAACTCTACACTCTGGATGGAAAA
CAGGTAACTTGTCTCCATGATTTCTTTGGTGATGATGATGTGTTTATTGCCTGTGGTCCTGAAAAATTTCGCTATGCTCAGGATGATTTTTCTCTGGATGAAAAT
GAATGCCGAGTCATGAAGGGAAACCCATCAGCCACAGCTGGCCCAAAGGCATCCCCAACACCTCAGAAGACTTCAGCCAAGAGCCCTGGTCCTATGCGCCGAAGC
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ATGAAAACACTCCCCCTTCATAGTCATTGTACTGAAATGCAAAGACTGCTTCCTAAGCTGGAGATGCTAACCTTGGGTAGCTCCTTCTGTTCTCTTCAAGGGGAA
TTTTGTCAGGCTATGGATTCATTTACAACTGTTAGTCATGTGGGCATGTGTGAGGAAACAGATGCCAGTTTTAATGTATTTAGCCCGAAGTTCCAATTTGATAGG
AGCCACTGTCAGTCTCTGAGGTTCCACCAAAATATGGAACTTGATTTTGGACACTTTGACGAAAGAGATAAGACATCCAGGAACATGCGAGGCTCCCGGATGAAT
GGGTTGCCTAGCCCCACTCACAGCGCCCACTGTAGCTTCTACCGAACCAGAACCTTGCAGGCACTGAGTAATGAGAAGAAAGCCAAGAAGGTACGTTTCTACCGC
AATGGGGACCGCTACTTCAAGGGGATTGTGTACGCTGTGTCCTCTGACCGTTTTCGCAGCTTTGACGCCTTGCTGGCTGACCTGACGCGATCTCTGTCTGACAAC
ATCAACCTGCCTCAGGGAGTGCGTTACATTTACACCATTGATGGATCCAGGAAGATCGGAAGCATGGATGAACTGGAGGAAGGGGAAAGCTATGTCTGTTCCTCA
GACAACTTCTTTAAAAAGGTGGAGTACACCAAGAATGTCAATCCCAACTGGTCTGTCAACGTAAAAACATCTGCCAATATGAAAGCCCCCCAGTCCTTGGCTAGC
AGCAACAGTGCACAGGCCAGGGAGAACAAGGACTTTGTGCGCCCCAAGCTGGTTACCATCATCCGCAGTGGGGTGAAGCCTCGGAAGGCTGTGCGTGTGCTTCTG
AACAAGAAGACAGCCCACTCTTTTGAGCAAGTCCTCACTGATATCACAGAAGCCATCAAACTGGAGACCGGGGTTGTCAAAAAACTCTACACTCTGGATGGAAAA
CAGGTAACTTGTCTCCATGATTTCTTTGGTGATGATGATGTGTTTATTGCCTGTGGTCCTGAAAAATTTCGCTATGCTCAGGATGATTTTTCTCTGGATGAAAAT
GAATGCCGAGTCATGAAGGGAAACCCATCAGCCACAGCTGGCCCAAAGGCATCCCCAACACCTCAGAAGACTTCAGCCAAGAGCCCTGGTCCTATGCGCCGAAGC
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>DCX|1641|protein
MKTLPLHSHCTEMQRLLPKLEMLTLGSSFCSLQGEFCQAMDSFTTVSHVGMCEETDASFNVFSPKFQFDRSHCQSLRFHQNMELDFGHFDERDKTSRNMRGSRMN
GLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSS
DNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGK
QVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLSTPKSKQSPISTPTSPGSLR
KHKDLYLPLSLDDSDSLGDSM
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MKTLPLHSHCTEMQRLLPKLEMLTLGSSFCSLQGEFCQAMDSFTTVSHVGMCEETDASFNVFSPKFQFDRSHCQSLRFHQNMELDFGHFDERDKTSRNMRGSRMN
GLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSS
DNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGK
QVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSANGTSSSQLSTPKSKQSPISTPTSPGSLR
KHKDLYLPLSLDDSDSLGDSM
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Evidence summary TopClick 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) | Yes | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Lissencephaly, X-linked (300067) |
| Description | Type 1 lissencephaly |
| Reference(s) | 18685874; 11711858; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 1
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | |||||||||||
| Vourc'h, 2002_1 | Unknown | - |  | | AD | - (4-20) |
- | 165 (-) |
- - | ||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.