chr13:48806748:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:48,806,748-48,844,493 |
| hg38 | chr13:48,232,612-48,270,357 |
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 |
|---|---|---|---|---|---|
| 0.004 | Presenile dementia | A further understanding of the genes that function as regulators of the ITM2B pr... | BeFree | 25557390 | Detail |
| 0.120 | Hypertensive disease | NA | CTD_human | Detail | |
| <0.001 | lymphoma | The ITM2B (BRI2) gene is a target of BCL6 repression: Implications for lymphomas... | BeFree | 25557390 | Detail |
| <0.001 | neuroblastoma | BRI2 ectodomain affects Aβ42 fibrillation and tau truncation in human neuroblast... | BeFree | 25336154 | Detail |
| <0.001 | Prostatic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Retinal Diseases | NA | BeFree | Detail | |
| <0.001 | B-Cell Lymphomas | Knockdown of endogenous BCL6 in a human B cell lymphoma line increases ITM2B exp... | BeFree | 25557390 | Detail |
| <0.001 | T-Cell Lymphoma | Further, there is an inverse relationship between the expression levels of BCL6 ... | BeFree | 25557390 | Detail |
| <0.001 | cerebral amyloid angiopathy | NA | BeFree | Detail | |
| 0.001 | Neurofibrillary degeneration (morphologic abnormality) | However, exposure to rBRI276-266 significantly induced the truncation of tau, in... | BeFree | 25336154 | Detail |
| <0.001 | Synovial Cyst | NA | BeFree | Detail | |
| <0.001 | Lung Diseases, Interstitial | NA | BeFree | Detail | |
| <0.001 | Fibrillation | BRI2 ectodomain affects Aβ42 fibrillation and tau truncation in human neuroblast... | BeFree | 25336154 | Detail |
| 0.001 | Memory impairment | NA | BeFree | Detail | |
| <0.001 | Spastic syndrome | NA | BeFree | Detail | |
| <0.001 | Senile Plaques | NA | BeFree | Detail | |
| <0.001 | Impaired cognition | NA | BeFree | Detail | |
| 0.011 | dementia | A further understanding of the genes that function as regulators of the ITM2B pr... | BeFree,LHGDN | 25557390 | Detail |
| 0.002 | Neurodegenerative Disorders | The ITM2B (BRI2) gene is a target of BCL6 repression: Implications for lymphomas... | BeFree | 25557390 | Detail |
| 0.002 | Neurodegenerative Disorders | Familial British dementia (FBD) is an inherited neurodegenerative disease believ... | BeFree | 25957407 | Detail |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | BRI2 ectodomain affects Aβ42 fibrillation and tau truncation in human neuroblast... | BeFree | 25336154 | Detail |
| <0.001 | Amyloidosis, Familial | NA | BeFree | Detail | |
| 0.001 | Familial Dementia | NA | BeFree | Detail | |
| <0.001 | Retinal Dystrophies | NA | BeFree | Detail | |
| <0.001 | Myxoid cyst | NA | BeFree | Detail | |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| <0.001 | Aural atresia, congenital | NA | BeFree | Detail | |
| 0.444 | Dementia, familial Danish | Molecular alterations in the ITM2B gene are associated with two neurodegenerativ... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET | 25557390 | Detail |
| 0.443 | Dementia, familial British | Post-translational processing of wild type BRI2 and FBD-BRI2 result in the produ... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET | 25957407 | Detail |
| <0.001 | Amyloid angiopathy | NA | BeFree | Detail | |
| <0.001 | Plaque, Amyloid | NA | BeFree | Detail | |
| 0.240 | RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES | NA | ORPHANET,UNIPROT | Detail | |
| 0.005 | Alzheimer's disease | Here, we aimed to investigate the effects of recombinant BRI2 ectodomain (rBRI27... | BeFree,LHGDN | 25336154 | Detail |
| 0.005 | Alzheimer's disease | ITM2B dysfunction also may be relevant for the development of Alzheimer's diseas... | BeFree,LHGDN | 25557390 | Detail |
| <0.001 | amyloidosis | NA | BeFree | Detail | |
| <0.001 | Ataxia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A further understanding of the genes that function as regulators of the ITM2B protein may provide in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The ITM2B (BRI2) gene is a target of BCL6 repression: Implications for lymphomas and neurodegenerati... | DisGeNET | Detail |
| BRI2 ectodomain affects Aβ42 fibrillation and tau truncation in human neuroblastoma cells. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Knockdown of endogenous BCL6 in a human B cell lymphoma line increases ITM2B expression. | DisGeNET | Detail |
| Further, there is an inverse relationship between the expression levels of BCL6 and ITM2B proteins i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| However, exposure to rBRI276-266 significantly induced the truncation of tau, indicating that BRI2 e... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| BRI2 ectodomain affects Aβ42 fibrillation and tau truncation in human neuroblastoma cells. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A further understanding of the genes that function as regulators of the ITM2B protein may provide in... | DisGeNET | Detail |
| The ITM2B (BRI2) gene is a target of BCL6 repression: Implications for lymphomas and neurodegenerati... | DisGeNET | Detail |
| Familial British dementia (FBD) is an inherited neurodegenerative disease believed to result from a ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| BRI2 ectodomain affects Aβ42 fibrillation and tau truncation in human neuroblastoma cells. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Molecular alterations in the ITM2B gene are associated with two neurodegenerative diseases, Familial... | DisGeNET | Detail |
| Post-translational processing of wild type BRI2 and FBD-BRI2 result in the production of a 23-residu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we aimed to investigate the effects of recombinant BRI2 ectodomain (rBRI276-266) on Aβ aggrega... | DisGeNET | Detail |
| ITM2B dysfunction also may be relevant for the development of Alzheimer's disease. | DisGeNET | Detail |
| NA | 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
- hg19
- Position
- chr13:48,806,748-48,844,493
- Variant Type
- snv
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