chr8:115408496:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:116,420,724-116,681,202 |
| hg38 | chr8:115,408,496-115,668,975 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.005 | Colorectal Neoplasms | NA | GAD | Detail | |
| <0.001 | External exotoses | NA | BeFree | Detail | |
| <0.001 | hereditary multiple exostoses | NA | BeFree | Detail | |
| 0.002 | Heart Diseases | NA | GAD | Detail | |
| 0.003 | hypertrichosis | NA | BeFree,LHGDN | Detail | |
| 0.002 | Insulin resistance | NA | GAD | Detail | |
| 0.242 | Langer-Giedion syndrome | In the March issue of the Journal in 2012, we reported on a girl with Langer-Gie... | BeFree,CTD_human,ORPHANET | 25899858 | Detail |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| 0.120 | Animal Mammary Neoplasms | NA | CTD_human | Detail | |
| 0.120 | Mammary Neoplasms, Experimental | NA | CTD_human | Detail | |
| 0.002 | narcolepsy | NA | GAD | Detail | |
| <0.001 | osteosarcoma | NA | BeFree | Detail | |
| 0.120 | Peripheral neuropathy | NA | CTD_human | Detail | |
| 0.003 | Prostatic Neoplasms | NA | LHGDN | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Tooth, Supernumerary | NA | BeFree | Detail | |
| <0.001 | brachydactyly | NA | BeFree | Detail | |
| 0.003 | Trichorhinophalangeal syndrome | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| 0.120 | Craniofacial Abnormalities | NA | BeFree,CTD_human | Detail | |
| <0.001 | Skeletal dysplasia | NA | BeFree | Detail | |
| <0.001 | Fragile X chromosome | NA | BeFree | Detail | |
| <0.001 | Fibrosis of bile duct | Trps1 regulates biliary epithelial-mesenchymal transition and has roles during b... | BeFree | 25886207 | Detail |
| <0.001 | Osteosarcoma of bone | NA | BeFree | Detail | |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.002 | breast carcinoma | Finally, we demonstrate that TRPS1 expression is elevated in luminal breast canc... | BeFree | 25277197 | Detail |
| 0.002 | major depressive disorder | NA | GAD | Detail | |
| 0.002 | Blood pressure finding | NA | GAD | Detail | |
| 0.002 | Systemic arterial pressure | NA | GAD | Detail | |
| <0.001 | Partial Trisomy | NA | BeFree | Detail | |
| 0.003 | Mammary Neoplasms | NA | BeFree,LHGDN | Detail | |
| 0.002 | Creatinine finding | NA | GAD | Detail | |
| 0.002 | Glomerular filtration rate finding | NA | GAD | Detail | |
| <0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder) | NA | BeFree | Detail | |
| <0.001 | malignant neoplasm of breast staging | NA | BeFree | Detail | |
| <0.001 | Cornelia de Lange syndrome 4 | Recent discoveries have shown that heterozygous intragenic mutations or contiguo... | BeFree | 25899858 | Detail |
| <0.001 | intellectual disability | Intellectual disability is uncommon in TRPS I and, if present, usually mild. | BeFree | 25792522 | Detail |
| <0.001 | Congenital Abnormality | To understand the developmental defects of these patient's hair follicles, we an... | BeFree | 25514040 | Detail |
| <0.001 | Adenovirus Infections | Expression of E-cadherin was increased in HIBECs following Trps1 adenovirus infe... | BeFree | 25886207 | Detail |
| 0.002 | rheumatoid arthritis | NA | GAD | Detail | |
| 0.120 | Bone Diseases, Developmental | NA | BeFree,CTD_human | Detail | |
| 0.002 | Malignant neoplasm of breast | Finally, we demonstrate that TRPS1 expression is elevated in luminal breast canc... | BeFree | 25277197 | Detail |
| 0.003 | Noninfiltrating Intraductal Carcinoma | NA | BeFree,LHGDN | Detail | |
| 0.003 | Carcinoma, Papillary | NA | BeFree,LHGDN | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Trps1 regulates biliary epithelial-mesenchymal transition and has roles during biliary fibrosis in l... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Finally, we demonstrate that TRPS1 expression is elevated in luminal breast cancer cells and luminal... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions in... | DisGeNET | Detail |
| Intellectual disability is uncommon in TRPS I and, if present, usually mild. | DisGeNET | Detail |
| To understand the developmental defects of these patient's hair follicles, we analyzed the developme... | DisGeNET | Detail |
| Expression of E-cadherin was increased in HIBECs following Trps1 adenovirus infection and CP/reperfu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Finally, we demonstrate that TRPS1 expression is elevated in luminal breast cancer cells and luminal... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr8:115,408,496-115,668,975
- Variant Type
- snv
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