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RTL9 (Retrotransposon Gag Like 9) is a Protein Coding gene. Diseases associated with RTL9 include Amme Complex and Embryonal Testis Carcinoma. An important paralog of this gene is MUC4.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ110346 | Promoter | 0.6 | EPDnew | 250.4 | -11.2 | -11240 | 0.1 | REST CTCF ZBTB33 | GNG5P2 HSALNG0139521 RTL9 RF00017-8617 AMMECR1 TMEM164 | |
GH0XJ110358 | Promoter | 0.3 | EPDnew | 250.7 | +0.7 | 729 | 0.1 | HSALNG0139522 RTL9 AMMECR1 | ||
GH0XJ110315 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 11.9 | -40.9 | -40890 | 4.8 | TBP ZBTB10 FEZF1 MNT IKZF1 SMAD5 HES1 MBD2 POLR2A BHLHE40 | LOC105373312 lnc-CHRDL1-2 lnc-RTL9-6 AMMECR1 RTL9 AMMECR1-IT1 TMEM164 | |
GH0XJ110401 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 12.2 | +45.4 | 45400 | 4.6 | CEBPA IKZF1 ZNF217 CEBPB REST NFATC3 MAX CTCF ZNF341 TAL1 | RTL9 AMMECR1 HSALNG0139522 | |
GH0XJ110176 | Enhancer | 1.1 | Ensembl ENCODE | 11.8 | -177.9 | -177870 | 6.9 | MBD2 BHLHE40 NONO ZNF513 ARNT ZNF395 VEZF1 NBN TAL1 EBF1 | RTL9 lnc-RTL9-2 lnc-TMEM164-2 TMEM164 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RGAG1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RGAG1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RGAG1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rgag1 30 31 |
|
OneToOne | |
Rtl9 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | LOC100912526 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | RGAG1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs760284501 | Uncertain Significance: not provided | 110,452,751(+) |
G/A NM_020769.2(RTL9):c.2134G>A (p.Ala712Thr) |
MISSENSE | |
rs771130284 | Uncertain Significance: Spinocerebellar ataxia, X-linked | 110,453,979(+) |
C/T NM_020769.2(RTL9):c.3362C>T (p.Ser1121Leu) |
MISSENSE | |
rs35495390 | - |
p.Pro777Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758884 | CNV | loss | 17122850 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amme complex |
|
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embryonal testis carcinoma |
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non-syndromic x-linked intellectual disability |
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