chr22:40410281:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:40,806,285-41,032,723 |
| hg38 | chr22:40,410,281-40,636,719 |
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 |
|---|---|---|---|---|---|
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| <0.001 | Cervix Diseases | NA | BeFree | Detail | |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| <0.001 | colitis | MRTF-A deficiency also reduced the synthesis of pro-inflammatory mediators in a ... | BeFree | 25189621 | Detail |
| <0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | Coronary heart disease | NA | BeFree | Detail | |
| <0.001 | scleroderma | A Role of Myocardin Related Transcription Factor-A (MRTF-A) in Scleroderma Relat... | BeFree | 25955164 | Detail |
| <0.001 | Diabetic Nephropathy | Myocardin-Related Transcription Factor A Epigenetically Regulates Renal Fibrosis... | BeFree | 25349198 | Detail |
| <0.001 | Down syndrome | NA | BeFree | Detail | |
| <0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
| <0.001 | heavy chain disease | NA | BeFree | Detail | |
| 0.002 | HIV Infections | Exosome release induced by HIV-1 Nef was also dependent on MAL expression. | BeFree | 26109641 | Detail |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| <0.001 | Immunologic Deficiency Syndromes | In this issue of Blood, Record et al report a novel human primary neutrophil imm... | BeFree | 26405212 | Detail |
| <0.001 | Keloid | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| 0.008 | Acute Megakaryocytic Leukemias | We demonstrate here that the transcriptional modulator megakaryocytic leukemia 1... | BeFree,LHGDN | 25746000 | Detail |
| 0.008 | Acute Megakaryocytic Leukemias | Phagocytosis of ACs by splenic MZMs required the megakaryoblastic leukemia 1 (MK... | BeFree,LHGDN | 26098211 | Detail |
| 0.008 | Acute Megakaryocytic Leukemias | Megakaryoblastic leukemia 1 (MKL1), also known as MAL or myocardin-related trans... | BeFree,LHGDN | 26224645 | Detail |
| 0.008 | Acute Megakaryocytic Leukemias | In this issue of Blood, Record et al report a novel human primary neutrophil imm... | BeFree,LHGDN | 26405212 | Detail |
| 0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | Lung Neoplasms | Re-expression of MAL and OLIG2 to physiological levels dramatically reduced the ... | BeFree | 24469050 | Detail |
| <0.001 | Lupus Vulgaris | Aggregation of plasmacytoid DCs in the splenic perifollicular region, follicular... | BeFree | 26098211 | Detail |
| <0.001 | Lupus Erythematosus, Discoid | Aggregation of plasmacytoid DCs in the splenic perifollicular region, follicular... | BeFree | 26098211 | Detail |
| <0.001 | Lupus Erythematosus, Systemic | Aggregation of plasmacytoid DCs in the splenic perifollicular region, follicular... | BeFree | 26098211 | Detail |
| <0.001 | malaria | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.002 | Neoplasm Metastasis | But the exact molecular mechanism on metastasis is still not fully understood; w... | BeFree | 25038455 | Detail |
| <0.001 | obesity | NA | BeFree | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| <0.001 | pulmonary fibrosis | NA | BeFree | Detail | |
| <0.001 | retinoblastoma | NA | BeFree | Detail | |
| <0.001 | schizophrenia | Common variants in the MKL1 gene confer risk of schizophrenia. | BeFree | 25380769 | Detail |
| <0.001 | systemic scleroderma | A Role of Myocardin Related Transcription Factor-A (MRTF-A) in Scleroderma Relat... | BeFree | 25955164 | Detail |
| <0.001 | Tuberculosis, Pulmonary | To evaluate the possible association between Toll-interleukin 1 receptor (TIR) d... | BeFree | 25066393 | Detail |
| <0.001 | Trisomy | NA | BeFree | Detail | |
| <0.001 | Tuberculosis, Pulmonary | To evaluate the possible association between Toll-interleukin 1 receptor (TIR) d... | BeFree | 25066393 | Detail |
| 0.003 | Vascular Diseases | NA | BeFree,LHGDN | Detail | |
| <0.001 | acute leukemia | NA | BeFree | Detail | |
| <0.001 | renal fibrosis | Myocardin-Related Transcription Factor A Epigenetically Regulates Renal Fibrosis... | BeFree | 25349198 | Detail |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Adult Acute Myeloblastic Leukemia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | MKL1 potentiates lung cancer cell migration and invasion by epigenetically activ... | BeFree | 25746000 | Detail |
| <0.001 | cervix carcinoma | Detection of methylation of the promoter region of the MAL and CADM1 genes by py... | BeFree | 25617886 | Detail |
| <0.001 | MRSA - Methicillin resistant Staphylococcus aureus infection | NA | BeFree | Detail | |
| <0.001 | Cervical intraepithelial neoplasia grade 2 | In hrHPV-positive cervical scrapes (n = 250), cytology [threshold: atypical squa... | BeFree | 24962840 | Detail |
| <0.001 | Primary immune deficiency disorder | Together, our results show that MKL1 is a nonredundant regulator of cytoskeleton... | BeFree | 26224645 | Detail |
| <0.001 | lupus erythematosus | Aggregation of plasmacytoid DCs in the splenic perifollicular region, follicular... | BeFree | 26098211 | Detail |
| <0.001 | Secondary malignant neoplasm of liver | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | Epithelial ovarian cancer | NA | BeFree | Detail | |
| <0.001 | invasive cancer | NA | BeFree | Detail | |
| 0.002 | breast carcinoma | MRTF-A and STAT3 synergistically promote breast cancer cell migration. | BeFree | 25038455 | Detail |
| <0.001 | Carcinoma of lung | MKL1 potentiates lung cancer cell migration and invasion by epigenetically activ... | BeFree | 25746000 | Detail |
| <0.001 | Malignant neoplasm of gastrointestinal tract | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Plasmodium ovale infection | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| 0.001 | Mediastinal (Thymic) Large B-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Classical Hodgkin's Lymphoma | NA | BeFree | Detail | |
| <0.001 | Idiopathic Pulmonary Fibrosis | NA | BeFree | Detail | |
| 0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Bacteremia | NA | BeFree | Detail | |
| <0.001 | Bacterial Infections | Immunodeficiency and severe susceptibility to bacterial infection associated wit... | BeFree | 26224645 | Detail |
| 0.122 | Malignant neoplasm of breast | MRTF-A and STAT3 synergistically promote breast cancer cell migration. | BeFree,GWASCAT | 25038455 | Detail |
| <0.001 | Merkel cell carcinoma | Our results validate the use of transcriptome analysis to assess the cancer cell... | BeFree | 25521454 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MRTF-A deficiency also reduced the synthesis of pro-inflammatory mediators in a mouse model of colit... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A Role of Myocardin Related Transcription Factor-A (MRTF-A) in Scleroderma Related Fibrosis. | DisGeNET | Detail |
| Myocardin-Related Transcription Factor A Epigenetically Regulates Renal Fibrosis in Diabetic Nephrop... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Exosome release induced by HIV-1 Nef was also dependent on MAL expression. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this issue of Blood, Record et al report a novel human primary neutrophil immunodeficiency disord... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We demonstrate here that the transcriptional modulator megakaryocytic leukemia 1 (MKL1) was activate... | DisGeNET | Detail |
| Phagocytosis of ACs by splenic MZMs required the megakaryoblastic leukemia 1 (MKL1) transcriptional ... | DisGeNET | Detail |
| Megakaryoblastic leukemia 1 (MKL1), also known as MAL or myocardin-related transcription factor A (M... | DisGeNET | Detail |
| In this issue of Blood, Record et al report a novel human primary neutrophil immunodeficiency disord... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Re-expression of MAL and OLIG2 to physiological levels dramatically reduced the growth of lung tumor... | DisGeNET | Detail |
| Aggregation of plasmacytoid DCs in the splenic perifollicular region, follicular translocation of MZ... | DisGeNET | Detail |
| Aggregation of plasmacytoid DCs in the splenic perifollicular region, follicular translocation of MZ... | DisGeNET | Detail |
| Aggregation of plasmacytoid DCs in the splenic perifollicular region, follicular translocation of MZ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| But the exact molecular mechanism on metastasis is still not fully understood; we now report that bo... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Common variants in the MKL1 gene confer risk of schizophrenia. | DisGeNET | Detail |
| A Role of Myocardin Related Transcription Factor-A (MRTF-A) in Scleroderma Related Fibrosis. | DisGeNET | Detail |
| To evaluate the possible association between Toll-interleukin 1 receptor (TIR) domain containing ada... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To evaluate the possible association between Toll-interleukin 1 receptor (TIR) domain containing ada... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Myocardin-Related Transcription Factor A Epigenetically Regulates Renal Fibrosis in Diabetic Nephrop... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MKL1 potentiates lung cancer cell migration and invasion by epigenetically activating MMP9 transcrip... | DisGeNET | Detail |
| Detection of methylation of the promoter region of the MAL and CADM1 genes by pyrosequencing in cerv... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In hrHPV-positive cervical scrapes (n = 250), cytology [threshold: atypical squamous cells of undete... | DisGeNET | Detail |
| Together, our results show that MKL1 is a nonredundant regulator of cytoskeleton-associated function... | DisGeNET | Detail |
| Aggregation of plasmacytoid DCs in the splenic perifollicular region, follicular translocation of MZ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MRTF-A and STAT3 synergistically promote breast cancer cell migration. | DisGeNET | Detail |
| MKL1 potentiates lung cancer cell migration and invasion by epigenetically activating MMP9 transcrip... | 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 |
| Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function... | DisGeNET | Detail |
| MRTF-A and STAT3 synergistically promote breast cancer cell migration. | DisGeNET | Detail |
| Our results validate the use of transcriptome analysis to assess the cancer cell line representative... | 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
- -
- dbSNP
- rs386502799 dbSNP
- Genome
- hg38
- Position
- chr22:40,410,281-40,636,719
- Variant Type
- snv
Genome browser