chr1:26693236:> Detail (hg38) (ARID1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:27,019,727-27,108,595 |
| hg38 | chr1:26,693,236-26,782,104 |
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
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| ovarian clear cell carcinoma | Dasatinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 27364904 | Detail |
| ovarian clear cell carcinoma | GSK126 | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 25686104 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | squamous cell carcinoma | Our findings have demonstrated the presence of a correlation between ARID1A expr... | BeFree | 26303865 | Detail |
| 0.120 | Carcinoma, Transitional Cell | NA | BeFree,CTD_human | Detail | |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| <0.001 | Uterine Cervical Neoplasm | This retrospective study was designed to evaluate the differences in tissue expr... | BeFree | 26303865 | Detail |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.120 | adenoid cystic carcinoma | NA | CTD_human | Detail | |
| 0.120 | Endometrial Neoplasms | NA | CTD_human | Detail | |
| <0.001 | endometrial hyperplasia | NA | BeFree | Detail | |
| 0.003 | endometriosis | Complete loss of ARID1A expression was found in 8 of 17 EMCA cases (47%) and non... | BeFree | 25557364 | Detail |
| 0.003 | endometriosis | ARID1A and PIK3CA mutations appeared consistently in concurrent endometriosis wh... | BeFree | 25692284 | Detail |
| <0.001 | gastritis | NA | BeFree | Detail | |
| <0.001 | cardiac arrest | ECCCs had SCA-like features with rare expression of estrogen receptor/progestero... | BeFree | 25473756 | Detail |
| <0.001 | Heart failure | NA | BeFree | Detail | |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| 0.003 | leukemia | NA | LHGDN | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | lymphogranuloma venereum | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of stomach | Mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) have been found i... | BeFree | 24744582 | Detail |
| 0.002 | Malignant neoplasm of stomach | The recent years has seen considerable progress in deciphering the genomic lands... | BeFree | 26073375 | Detail |
| <0.001 | meningioma | ARID1A and TERT promoter mutations in dedifferentiated meningioma. | BeFree | 25963524 | Detail |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.120 | neuroblastoma | NA | BeFree,CTD_human | Detail | |
| 0.003 | ovarian carcinoma | Here we show that inhibition of the EZH2 methyltransferase acts in a synthetic l... | BeFree | 25686104 | Detail |
| 0.120 | Sezary syndrome | NA | CTD_human | Detail | |
| 0.120 | Stomach Neoplasms | NA | CTD_human | Detail | |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| <0.001 | diffuse large B-cell lymphoma | Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), his... | BeFree | 26473533 | Detail |
| 0.120 | T-Cell Lymphoma | NA | CTD_human | Detail | |
| 0.120 | Lymphoma, T-Cell, Cutaneous | NA | CTD_human | Detail | |
| <0.001 | Epstein-Barr Virus Infections | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Sarcoma, Epithelioid | NA | BeFree | Detail | |
| <0.001 | adenosquamous carcinoma | Lower levels of the ARID1A expression were detected in cases with adenosquamous ... | BeFree | 26303865 | Detail |
| <0.001 | endometrial stromal sarcoma | NA | BeFree | Detail | |
| 0.003 | Adenocarcinoma, Clear Cell | In ovarian clear cell carcinomas, TERT promoter mutations were correlated with p... | BeFree | 25081752 | Detail |
| 0.003 | Adenocarcinoma, Clear Cell | Notably, ARID1A is mutated in over 50% of ovarian clear cell carcinomas, which c... | BeFree | 25686104 | Detail |
| 0.003 | Carcinoma, Endometrioid | ARID1A mutations are observed in various tumors, including ovarian clear cell (O... | BeFree | 24979463 | Detail |
| 0.003 | Carcinoma, Endometrioid | ECCCs had SCA-like features with rare expression of estrogen receptor/progestero... | BeFree | 25473756 | Detail |
| 0.120 | cholangiocarcinoma | Recent whole-exome and targeted sequencing not only confirmed frequent mutations... | BeFree,CTD_human | 25693006 | Detail |
| <0.001 | Cervical Intraepithelial Neoplasia | NA | BeFree | Detail | |
| <0.001 | Neuroendocrine Tumors | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of penis | Immunohistochemical expression of ARID1A in penile squamous cell carcinomas: a t... | BeFree | 25776029 | Detail |
| 0.001 | Turcot syndrome (disorder) | The tumors with abnormal ARID1A expression more frequently indicated MMR deficie... | BeFree | 25717252 | Detail |
| 0.240 | Coffin-Siris syndrome | NA | BeFree,CTD_human,ORPHANET | Detail | |
| <0.001 | Myelokathexis | NA | BeFree | Detail | |
| <0.001 | gastric adenocarcinoma | ARID1A expression in gastric adenocarcinoma: clinicopathological significance an... | BeFree | 25717252 | Detail |
| <0.001 | Malignant Childhood Neoplasm | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | Decreased expression of ARID1A contributes to infiltrative growth of esophageal ... | BeFree | 25757668 | Detail |
| 0.121 | Adenocarcinoma Of Esophagus | NA | BeFree,CTD_human | Detail | |
| <0.001 | Conventional (Clear Cell) Renal Cell Carcinoma | NA | BeFree | Detail | |
| <0.001 | endometrial clear cell adenocarcinoma | We evaluated mutations of the TERT promoter and PIK3CA, expression of ARID1A, an... | BeFree | 25081752 | Detail |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Squamous intraepithelial lesion | Lower levels of the ARID1A expression were detected in cases with adenosquamous ... | BeFree | 26303865 | Detail |
| <0.001 | High-Grade Squamous Intraepithelial Lesions | Lower levels of the ARID1A expression were detected in cases with adenosquamous ... | BeFree | 26303865 | Detail |
| <0.001 | cystadenofibroma | NA | BeFree | Detail | |
| <0.001 | Endometrioid carcinoma ovary | Loss of ARID1A or loss of PTEN expression, and MSI-H, were more common in EMCAs ... | BeFree | 25195947 | Detail |
| <0.001 | cervical adenosquamous carcinoma | Therefore, ARID1A gene may suggestively have a role in the pathogenesis of cervi... | BeFree | 26303865 | Detail |
| <0.001 | Atypical endometrial hyperplasia | NA | BeFree | Detail | |
| 0.002 | endometrial carcinoma | ARID1A is a useful marker of malignancy in peritoneal washings for endometrial c... | BeFree | 25557364 | Detail |
| 0.002 | Carcinogenesis | ARID1A (AT-rich interactive domain 1A gene) has recently been identified as a no... | BeFree | 25557364 | Detail |
| 0.002 | Carcinogenesis | Chromosomal rearrangements leading to gene disruption were prevalent, affecting ... | BeFree | 25719666 | Detail |
| 0.001 | breast carcinoma | ARID1A mutations are observed in various tumors, including ovarian clear cell (O... | BeFree | 24979463 | Detail |
| <0.001 | Secondary malignant neoplasm of lymph node | Abnormal ARID1A expression, including reduced or loss of ARID1A expression, was ... | BeFree | 25717252 | Detail |
| 0.002 | stomach carcinoma | Mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) have been found i... | BeFree | 24744582 | Detail |
| 0.002 | stomach carcinoma | The recent years has seen considerable progress in deciphering the genomic lands... | BeFree | 26073375 | Detail |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of kidney | NA | BeFree | Detail | |
| <0.001 | Invasive breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Rhabdoid Tumor of the Kidney | Mutations in genes relating to genome integrity (TP53, BRCA2), chromatin remodel... | BeFree | 26364057 | Detail |
| <0.001 | ovarian neoplasm | Importantly, EZH2 inhibition caused regression of ARID1A-mutated ovarian tumors ... | BeFree | 25686104 | Detail |
| 0.120 | Microsatellite Instability | NA | CTD_human | Detail | |
| 0.002 | Malignant neoplasm of ovary | Here we show that inhibition of the EZH2 methyltransferase acts in a synthetic l... | BeFree | 25686104 | Detail |
| <0.001 | Ductal Carcinoma | NA | BeFree | Detail | |
| <0.001 | Complex atypical endometrial hyperplasia | NA | BeFree | Detail | |
| <0.001 | Hereditary Nonpolyposis Colorectal Cancer | NA | BeFree | Detail | |
| <0.001 | Endometrial Endometrioid Adenocarcinoma | MSI-H in endometrial endometrioid adenocarcinomas was also related to loss of AR... | BeFree | 25195947 | Detail |
| <0.001 | renal carcinoma | NA | BeFree | Detail | |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| <0.001 | ovarian clear cell adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma, Endometrioid | ECCCs had SCA-like features with rare expression of estrogen receptor/progestero... | BeFree | 25473756 | Detail |
| <0.001 | Meningioma, benign, no ICD-O subtype | ARID1A and TERT promoter mutations in dedifferentiated meningioma. | BeFree | 25963524 | Detail |
| <0.001 | uterine corpus cancer | Although ARID1A aberrations are not restricted to endometrial cancer, the author... | BeFree | 25557364 | Detail |
| 0.120 | liver carcinoma | NA | CTD_human | Detail | |
| 0.120 | Nasopharyngeal carcinoma | NA | CTD_human | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | NA | BeFree | Detail | |
| <0.001 | intellectual disability | Patients with ARID1A also had a wide spectrum of manifestations from severe ID a... | BeFree | 25168959 | Detail |
| 0.123 | adenocarcinoma | NA | BeFree,CTD_human,LHGDN | Detail | |
| <0.001 | adenofibroma | NA | BeFree | Detail | |
| 0.120 | Bladder Neoplasm | NA | BeFree,CTD_human | Detail | |
| 0.001 | Malignant neoplasm of breast | ARID1A mutations are observed in various tumors, including ovarian clear cell (O... | BeFree | 24979463 | Detail |
| 0.121 | Burkitt lymphoma | Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), his... | BeFree,CTD_human | 26473533 | Detail |
| <0.001 | Malignant neoplasm of endometrium | Although ARID1A aberrations are not restricted to endometrial cancer, the author... | BeFree | 25557364 | Detail |
| <0.001 | mucinous adenocarcinoma | NA | BeFree | Detail | |
| 0.003 | renal cell carcinoma | NA | LHGDN | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| High-throughput drug screens in OCCC tumor cell model identified synthetic lethal (SL) interaction ... | CIViC Evidence | Detail |
| Inhibition of the EZH2 methyltransferase acts in a synthetic lethal manner in ARID1A mutated ovarian... | CIViC Evidence | Detail |
| Our findings have demonstrated the presence of a correlation between ARID1A expression and adenomato... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This retrospective study was designed to evaluate the differences in tissue expressions of ARID1A in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Complete loss of ARID1A expression was found in 8 of 17 EMCA cases (47%) and none of the 16 endometr... | DisGeNET | Detail |
| ARID1A and PIK3CA mutations appeared consistently in concurrent endometriosis when present in the pr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| ECCCs had SCA-like features with rare expression of estrogen receptor/progesterone receptor (18.8%/6... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) have been found in 47% of GCs. | DisGeNET | Detail |
| The recent years has seen considerable progress in deciphering the genomic landscape of GC, identify... | DisGeNET | Detail |
| ARID1A and TERT promoter mutations in dedifferentiated meningioma. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here we show that inhibition of the EZH2 methyltransferase acts in a synthetic lethal manner in ARID... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), histone methyltransfera... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lower levels of the ARID1A expression were detected in cases with adenosquamous carcinomas (60%), lo... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In ovarian clear cell carcinomas, TERT promoter mutations were correlated with patient age >45 (P=0.... | DisGeNET | Detail |
| Notably, ARID1A is mutated in over 50% of ovarian clear cell carcinomas, which currently have no eff... | DisGeNET | Detail |
| ARID1A mutations are observed in various tumors, including ovarian clear cell (OCCC) and endometrioi... | DisGeNET | Detail |
| ECCCs had SCA-like features with rare expression of estrogen receptor/progesterone receptor (18.8%/6... | DisGeNET | Detail |
| Recent whole-exome and targeted sequencing not only confirmed frequent mutations in known CCA-relate... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Immunohistochemical expression of ARID1A in penile squamous cell carcinomas: a tissue microarray stu... | DisGeNET | Detail |
| The tumors with abnormal ARID1A expression more frequently indicated MMR deficiency (47.4% vs 20.2%,... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| ARID1A expression in gastric adenocarcinoma: clinicopathological significance and correlation with D... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Decreased expression of ARID1A contributes to infiltrative growth of esophageal squamous cell carcin... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We evaluated mutations of the TERT promoter and PIK3CA, expression of ARID1A, and other clinicopatho... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lower levels of the ARID1A expression were detected in cases with adenosquamous carcinomas (60%), lo... | DisGeNET | Detail |
| Lower levels of the ARID1A expression were detected in cases with adenosquamous carcinomas (60%), lo... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Loss of ARID1A or loss of PTEN expression, and MSI-H, were more common in EMCAs than OVEMs (P = 0.04... | DisGeNET | Detail |
| Therefore, ARID1A gene may suggestively have a role in the pathogenesis of cervical adenosquamous ca... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| ARID1A is a useful marker of malignancy in peritoneal washings for endometrial carcinoma. | DisGeNET | Detail |
| ARID1A (AT-rich interactive domain 1A gene) has recently been identified as a novel tumor suppressor... | DisGeNET | Detail |
| Chromosomal rearrangements leading to gene disruption were prevalent, affecting genes known to be im... | DisGeNET | Detail |
| ARID1A mutations are observed in various tumors, including ovarian clear cell (OCCC) and endometrioi... | DisGeNET | Detail |
| Abnormal ARID1A expression, including reduced or loss of ARID1A expression, was observed in 109 case... | DisGeNET | Detail |
| Mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) have been found in 47% of GCs. | DisGeNET | Detail |
| The recent years has seen considerable progress in deciphering the genomic landscape of GC, identify... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in genes relating to genome integrity (TP53, BRCA2), chromatin remodeling (ARID1A), cell a... | DisGeNET | Detail |
| Importantly, EZH2 inhibition caused regression of ARID1A-mutated ovarian tumors in vivo. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here we show that inhibition of the EZH2 methyltransferase acts in a synthetic lethal manner in ARID... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MSI-H in endometrial endometrioid adenocarcinomas was also related to loss of ARID1A expression (P <... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| ECCCs had SCA-like features with rare expression of estrogen receptor/progesterone receptor (18.8%/6... | DisGeNET | Detail |
| ARID1A and TERT promoter mutations in dedifferentiated meningioma. | DisGeNET | Detail |
| Although ARID1A aberrations are not restricted to endometrial cancer, the authors hypothesized that ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Patients with ARID1A also had a wide spectrum of manifestations from severe ID and serous internal c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| ARID1A mutations are observed in various tumors, including ovarian clear cell (OCCC) and endometrioi... | DisGeNET | Detail |
| Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), histone methyltransfera... | DisGeNET | Detail |
| Although ARID1A aberrations are not restricted to endometrial cancer, the authors hypothesized that ... | 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
- chr1:26,693,236-26,782,104
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- LOSS-OF-FUNCTION
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1293
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