Evidence Details for L1TD1
Basic Information Top
| Gene Symbol: | L1TD1 ( ECAT11,FLJ10884,MGC133253,RP5-1155K23.3 ) |
|---|---|
| Gene Full Name: | LINE-1 type transposase domain containing 1 |
| Band: | 1p31.3 |
| Quick Links | Entrez ID:54596; OMIM: NA; Uniprot ID:LITD1_HUMAN; ENSEMBL ID: ENSG00000240563; HGNC ID: 25595 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>L1TD1|54596|nucleotide
ATGTCTGATGTATCTACTAGTGTACAATCAAAATTTGCTAGACTTGCAAAGAAAAAGGAAAATATCACCTATATGAAAAGAGAGCAGTTAACAGAAACTGATAAG
GACATAGCTCCGGTATTAGATTTAAAATGCAAGGACGTATCAGCAATTATGAATAAGTTTAAGGTCTTAATGGAAATTCAAGACCTGATGTTTGAGGAGATGAGG
GAAACTCTTAAAAATGACCTAAAAGCAGTTTTAGGGGGAAAAGCTACAATACCTGAGGTAAAGAATTCAGAGAACTCCAGTAGTAGGACAGAGTTTCAGCAAATA
ATCAATTTAGCATTACAAAAAACAGGGATGGTAGGGAAAATAGAAGGAGAAAACTCTAAAATAGGTGATGATAATGAAAATTTAACCTTTAAATTAGAAGTAAAT
GAGCTGAGTGGTAAATTAGACAACACTAACGAATACAATAGTAATGATGGTAAGAAATTACCCCAGGGTGAATCACGAAGTTACGAAGTCATGGGAAGTATGGAA
GAAACCTTATGCAATATAGATGACAGAGATGGAAATCGCAATGTCCATTTAGAATTTACAGAAAGAGAGAGTAGGAAGGATGGAGAGGATGAATTTGTCAAAGAA
ATGAGAGAGGAAAGAAAATTTCAGAAATTGAAGAATAAAGAGGAGGTTTTAAAAGCCTCCAGAGAAGAAAAAGTGTTGATGGATGAAGGAGCAGTACTTACCCTG
GTAGCCGACCTTTCATCAGCAACACTGGATATTAGTAAGCAATGGAGTAATGTCTTCAACATTCTGAGAGAAAATGATTTTGAACCTAAATTTCTGTGTGAAGTT
AAATTAGCATTTAAATGTGATGGTGAAATAAAGACATTTTCAGATCTGCAAAGCCTTAGAAAATTTGCCAGCCAAAAATCTTCTGTGAAAGAATTACTGAAAGAT
GTACTCCCACAAAAGGAAGAAATAAATCAAGGAGGAAGAAAATATGGAATTCAAGAAAAAAGGGATAAAACCCTAATAGACTCAAAGCATAGAGCTGGAGAAATA
ACCAGTGATGGCTTGAGCTTCCTATTTCTTAAAGAAGTAAAAGTTGCTAAGCCAGAGGAGATGAAAAACTTAGAGACTCAAGAGGAAGAGTTTTCCGAGCTAGAG
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ATGTCTGATGTATCTACTAGTGTACAATCAAAATTTGCTAGACTTGCAAAGAAAAAGGAAAATATCACCTATATGAAAAGAGAGCAGTTAACAGAAACTGATAAG
GACATAGCTCCGGTATTAGATTTAAAATGCAAGGACGTATCAGCAATTATGAATAAGTTTAAGGTCTTAATGGAAATTCAAGACCTGATGTTTGAGGAGATGAGG
GAAACTCTTAAAAATGACCTAAAAGCAGTTTTAGGGGGAAAAGCTACAATACCTGAGGTAAAGAATTCAGAGAACTCCAGTAGTAGGACAGAGTTTCAGCAAATA
ATCAATTTAGCATTACAAAAAACAGGGATGGTAGGGAAAATAGAAGGAGAAAACTCTAAAATAGGTGATGATAATGAAAATTTAACCTTTAAATTAGAAGTAAAT
GAGCTGAGTGGTAAATTAGACAACACTAACGAATACAATAGTAATGATGGTAAGAAATTACCCCAGGGTGAATCACGAAGTTACGAAGTCATGGGAAGTATGGAA
GAAACCTTATGCAATATAGATGACAGAGATGGAAATCGCAATGTCCATTTAGAATTTACAGAAAGAGAGAGTAGGAAGGATGGAGAGGATGAATTTGTCAAAGAA
ATGAGAGAGGAAAGAAAATTTCAGAAATTGAAGAATAAAGAGGAGGTTTTAAAAGCCTCCAGAGAAGAAAAAGTGTTGATGGATGAAGGAGCAGTACTTACCCTG
GTAGCCGACCTTTCATCAGCAACACTGGATATTAGTAAGCAATGGAGTAATGTCTTCAACATTCTGAGAGAAAATGATTTTGAACCTAAATTTCTGTGTGAAGTT
AAATTAGCATTTAAATGTGATGGTGAAATAAAGACATTTTCAGATCTGCAAAGCCTTAGAAAATTTGCCAGCCAAAAATCTTCTGTGAAAGAATTACTGAAAGAT
GTACTCCCACAAAAGGAAGAAATAAATCAAGGAGGAAGAAAATATGGAATTCAAGAAAAAAGGGATAAAACCCTAATAGACTCAAAGCATAGAGCTGGAGAAATA
ACCAGTGATGGCTTGAGCTTCCTATTTCTTAAAGAAGTAAAAGTTGCTAAGCCAGAGGAGATGAAAAACTTAGAGACTCAAGAGGAAGAGTTTTCCGAGCTAGAG
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>L1TD1|54596|protein
MSDVSTSVQSKFARLAKKKENITYMKREQLTETDKDIAPVLDLKCKDVSAIMNKFKVLMEIQDLMFEEMRETLKNDLKAVLGGKATIPEVKNSENSSSRTEFQQI
INLALQKTGMVGKIEGENSKIGDDNENLTFKLEVNELSGKLDNTNEYNSNDGKKLPQGESRSYEVMGSMEETLCNIDDRDGNRNVHLEFTERESRKDGEDEFVKE
MREERKFQKLKNKEEVLKASREEKVLMDEGAVLTLVADLSSATLDISKQWSNVFNILRENDFEPKFLCEVKLAFKCDGEIKTFSDLQSLRKFASQKSSVKELLKD
VLPQKEEINQGGRKYGIQEKRDKTLIDSKHRAGEITSDGLSFLFLKEVKVAKPEEMKNLETQEEEFSELEELDEEASGMEDDEDTSGLEEEEEEPSGLEEEEEEE
ASGLEEDEASGLEEEEEQTSEQDSTFQGHTLVDAKHEVEITSDGMETTFIDSVEDSESEEEEEGKSSETGKVKTTSLTEKKASRRQKEIPFSYLVGDSGKKKLVK
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MSDVSTSVQSKFARLAKKKENITYMKREQLTETDKDIAPVLDLKCKDVSAIMNKFKVLMEIQDLMFEEMRETLKNDLKAVLGGKATIPEVKNSENSSSRTEFQQI
INLALQKTGMVGKIEGENSKIGDDNENLTFKLEVNELSGKLDNTNEYNSNDGKKLPQGESRSYEVMGSMEETLCNIDDRDGNRNVHLEFTERESRKDGEDEFVKE
MREERKFQKLKNKEEVLKASREEKVLMDEGAVLTLVADLSSATLDISKQWSNVFNILRENDFEPKFLCEVKLAFKCDGEIKTFSDLQSLRKFASQKSSVKELLKD
VLPQKEEINQGGRKYGIQEKRDKTLIDSKHRAGEITSDGLSFLFLKEVKVAKPEEMKNLETQEEEFSELEELDEEASGMEDDEDTSGLEEEEEEPSGLEEEEEEE
ASGLEEDEASGLEEEEEQTSEQDSTFQGHTLVDAKHEVEITSDGMETTFIDSVEDSESEEEEEGKSSETGKVKTTSLTEKKASRRQKEIPFSYLVGDSGKKKLVK
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2006_1 | Unknown | lymphoblastoid cell lines | 3 (-) |  | | monozygotic twins with different severity | autism | 3 (-) |
-0.84 | Down | - | |
| ||||||||||||
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 |
|---|---|---|---|---|
| O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
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.