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L1TD1 (LINE1 Type Transposase Domain Containing 1) is a Protein Coding gene. Diseases associated with L1TD1 include Testis Seminoma. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and obsolete signal transducer activity.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J062194 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE dbSUPER | 637.3 | +2.2 | 2178 | 5.8 | GATAD2A ATF7 TEAD4 KDM1A RCOR2 RXRB IRF2 SP1 POLR2A CEBPA | L1TD1 PATJ ENSG00000237227 lnc-KANK4-2 KANK4 | |
GH01J062192 | Enhancer | 0.3 | Ensembl | 627.6 | -1.8 | -1848 | 0.4 | EGR2 | L1TD1 lnc-L1TD1-1 PATJ | |
GH01J062179 | Enhancer | 0.9 | ENCODE CraniofacialAtlas dbSUPER | 23.8 | -12.8 | -12794 | 4.3 | TEAD4 ZHX2 CTBP1 YY1 ZNF217 CUX1 NFIC DPF2 ETS1 NFIB | piR-61846-001 L1TD1 KANK4 PATJ piR-40646-001 | |
GH01J062228 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE CraniofacialAtlas | 9.4 | +38.3 | 38291 | 10.7 | CREB1 GATAD2A TFE3 SOX13 RCOR2 TARDBP RXRB PATZ1 POLR2A CEBPA | USP1 KANK4 L1TD1 hsa-miR-5095-022 lnc-L1TD1-3 | |
GH01J062176 | Enhancer | 0.6 | ENCODE dbSUPER | 22.7 | -17.6 | -17587 | 1.7 | SCRT2 NANOG SP1 | piR-31433-001 piR-39323-001 piR-40646-001 L1TD1 PATJ lnc-L1TD1-7 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003727 | single-stranded RNA binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25702638 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:1990904 | ribonucleoprotein complex | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032197 | transposition, RNA-mediated | IBA | 21873635 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | L1TD1 30 31 |
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OneToOne | |
Mouse (Mus musculus) |
Mammalia | L1td1 31 |
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OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
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OneToMany | |
-- 31 |
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OneToMany | |||
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OneToMany | |||
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OneToMany | |||
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OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
784567 | Benign: not provided | 62,210,575(+) | GAACT/G | FRAMESHIFT_VARIANT | |
rs11207933 | - | p.Pro549Thr | |||
rs11207934 | - | p.Leu860Val | |||
rs2457828 | - | p.Lys329Asn | |||
rs2886644 | - | p.Thr613Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3577899 | CNV | loss | 25503493 |
esv3893601 | CNV | loss | 25118596 |
esv3893612 | CNV | loss | 25118596 |
Disorder | Aliases | PubMed IDs |
---|---|---|
testis seminoma |
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