Evidence Details for LARGE
Basic Information Top
| Gene Symbol: | LARGE ( KIAA0609,MDC1D ) |
|---|---|
| Gene Full Name: | like-glycosyltransferase |
| Band: | 22q12.3 |
| Quick Links | Entrez ID:9215; OMIM: 603590; Uniprot ID:LARGE_HUMAN; ENSEMBL ID: ENSG00000133424; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>LARGE|9215|nucleotide
ATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGCTGCCTCGTTGAGTCTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAA
GATGGAAAGCCCGTGTCTCTGTCACCGCTGGAGTCCCAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGC
GAGGTGGAGGAGGAGAACCGCGCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTCCATGGAG
GAGGGCACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGAGAAATGCGAGACAATCCACGTT
GCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCATAGACGGAACCCTCTGCACTTCCACCTTATTGCTGAC
TCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGCTGTGCGTGTGGACTTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGG
ATCCCCAATAAACATTACTCTGGGATTTATGGTCTGATGAAGCTTGTCCTGACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATC
ACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTGTTCCACAAGTTCAAAGGTCAGCAAGTCCTGGGCTTGGTGGAGAACCAGAGTGACTGGTACCTTGGAAAC
CTGTGGAAAAATCACCGCCCATGGCCAGCCCTTGGAAGAGGCTACAACACAGGGGTGATCCTGTTACTTCTGGATAAGCTGCGGAAGATGAAATGGGAGCAGATG
TGGAGGCTGACCGCAGAGAGGGAGCTCATGGGCATGCTCTCTACATCCTTAGCTGACCAGGATATTTTCAATGCCGTCATCAAACAAAACCCCTTCCTTGTGTAC
CAGCTCCCCTGCTTCTGGAATGTGCAGCTGTCAGACCACACCCGCTCCGAGCAGTGCTACAGAGACGTGTCTGATCTAAAGGTCATTCACTGGAACTCCCCCAAG
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ATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGCTGCCTCGTTGAGTCTTCTCTGCATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAA
GATGGAAAGCCCGTGTCTCTGTCACCGCTGGAGTCCCAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGGGAGCGCGAGAGCCTGGAGGTGCGCATGCGC
GAGGTGGAGGAGGAGAACCGCGCCCTCCGCAGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTCCATGGAG
GAGGGCACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCAGGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGAGAAATGCGAGACAATCCACGTT
GCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTCCTGTTCCATAGACGGAACCCTCTGCACTTCCACCTTATTGCTGAC
TCCATTGCGGAGCAGATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGCTGTGCGTGTGGACTTCTACAATGCAGACGAGCTCAAGTCTGAAGTTTCCTGG
ATCCCCAATAAACATTACTCTGGGATTTATGGTCTGATGAAGCTTGTCCTGACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTCCTTGACACGGATATC
ACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTGTTCCACAAGTTCAAAGGTCAGCAAGTCCTGGGCTTGGTGGAGAACCAGAGTGACTGGTACCTTGGAAAC
CTGTGGAAAAATCACCGCCCATGGCCAGCCCTTGGAAGAGGCTACAACACAGGGGTGATCCTGTTACTTCTGGATAAGCTGCGGAAGATGAAATGGGAGCAGATG
TGGAGGCTGACCGCAGAGAGGGAGCTCATGGGCATGCTCTCTACATCCTTAGCTGACCAGGATATTTTCAATGCCGTCATCAAACAAAACCCCTTCCTTGTGTAC
CAGCTCCCCTGCTTCTGGAATGTGCAGCTGTCAGACCACACCCGCTCCGAGCAGTGCTACAGAGACGTGTCTGATCTAAAGGTCATTCACTGGAACTCCCCCAAG
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>LARGE|9215|protein
MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSME
EGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSW
IPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQM
WRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP
SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMS
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MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSME
EGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSW
IPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQM
WRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP
SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMS
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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) | No | 0 (1) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 3 (5) |
Syndromic Autism Gene TopGenome-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 | ||||||
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | | | - | AD | 22 (13.64%) |
-1.35 | Down | 0.129 | |
| ||||||||||||
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 |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS 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.