Ensembl ID ENSG00000072501 Gene ID 8243 Accession 11111
Gene Symbol SMC1A Alias SMC1;SMCB;CDLS2;DEE85;SB1.8;EIEE85;SMC1L1;DXS423E;SMC1alpha Full Name structural maintenance of chromosomes 1A
Position X : 53374149 - 53422728 Length 48580 bases Strand Minus strand
Status Confidence Main interacting RNAsN.A.RBP type Non-canonical_RBPs
Summary Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

ENSG00000072501 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000072501 0.47 1.51e-15 BRCA
Ensembl ID Gene symbol Cancer types Pubmed ID
ENSG00000072501 tumor 19309015
ENSG00000072501 colorectal cancers 19842212
ENSG00000072501 cancer 20501661
ENSG00000072501 colon cancer 21390062
ENSG00000072501 tumor 22515193
ENSG00000072501 cancer 22763391
ENSG00000072501 colorectal cancer 23382697
ENSG00000072501 cancer 23426528
ENSG00000072501 breast cancer 23506640
ENSG00000072501 cancer 23638217
ENSG00000072501 breast cancer 23717600
ENSG00000072501 tumors 24121791
ENSG00000072501 AML 24335498
ENSG00000072501 AMLs 24856830
ENSG00000072501 colorectal cancer 25884313
ENSG00000072501 Wilms tumor 26315090
ENSG00000072501 colorectal cancer 26637483
ENSG00000072501 triple-negative breast cancer 26781859
ENSG00000072501 tumors 26871722
ENSG00000072501 cancers 26886259
ENSG00000072501 tumor 27300760
ENSG00000072501 cancer 27307603
ENSG00000072501 prostate cancer 27667360
ENSG00000072501 cancer 27739523
ENSG00000072501 colorectal cancer 27826041
ENSG00000072501 AML 28152414
ENSG00000072501 pediatric AML 28507466
ENSG00000072501 GBM 28868238
ENSG00000072501 DLBCL 28895406
ENSG00000072501 cancer 28924389
ENSG00000072501 GBM 29581866
ENSG00000072501 AML 29599201
ENSG00000072501 gastric cancer 29928354
ENSG00000072501 cancer 29988990
ENSG00000072501 prostate cancer 30242889
ENSG00000072501 AML 30246348
ENSG00000072501 AML 30630974
ENSG00000072501 tumors 30823889
ENSG00000072501 cancers 30873408
ENSG00000072501 cancer 30975996
ENSG00000072501 tumor 31451355
ENSG00000072501 tumor 31524239
ENSG00000072501 tumors 31578439
ENSG00000072501 acute myeloid leukemia (AML) 31648497
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
ENSG00000072501 acute myeloid leukemia missense_variant 2.523% (43/1704) 5 entries
ENSG00000072501 diffuse large B-cell lymphoma missense_variant 0.6557% (2/305) 2 entries
ENSG00000072501 myelodysplastic syndrome missense_variant 1.389% (2/144) 1 entry
ENSG00000072501 skin melanoma missense_variant 0.6205% (6/967) 2 entries
ENSG00000072501 colon adenocarcinoma sequence_alteration 3.463% (25/722) 3 entries
ENSG00000072501 acute myeloid leukemia stop_gained 2.523% (43/1704) 1 entry
ENSG00000072501 prostate adenocarcinoma sequence_alteration 0.6878% (10/1454) 1 entry
ENSG00000072501 large cell lung carcinoma missense_variant 11.11% (2/18) 1 entry
ENSG00000072501 small cell lung carcinoma frameshift_variant 1.567% (5/319) 1 entry
ENSG00000072501 female breast carcinoma missense_variant 1.498% (4/267) 2 entries
ENSG00000072501 breast carcinoma missense_variant 0.9213% (13/1411) 1 entry
ENSG00000072501 colorectal adenocarcinoma sequence_alteration 3.866% (44/1138) 1 entry
ENSG00000072501 lung adenocarcinoma missense_variant 0.6019% (7/1163) 4 entries
ENSG00000072501 prostate carcinoma sequence_alteration 1.643% (7/426) 1 entry
ENSG00000072501 prostate carcinoma missense_variant 1.643% (7/426) 1 entry
ENSG00000072501 bladder transitional cell carcinoma missense_variant 2.92% (4/137) 1 entry
ENSG00000072501 hemangioblastoma sequence_alteration 6.25% (2/32) 1 entry
ENSG00000072501 brain glioblastoma missense_variant 0.8639% (8/926) 1 entry
ENSG00000072501 ovarian serous adenocarcinoma missense_variant 0.8915% (6/673) 1 entry
ENSG00000072501 central nervous system primitive neuroectodermal neoplasm missense_variant 0.6757% (3/444) 1 entry
ENSG00000072501 acute myeloid leukemia sequence_alteration 2.523% (43/1704) 2 entries
ENSG00000072501 Cervical Small Cell Carcinoma missense_variant 33.33% (2/6) 1 entry
ENSG00000072501 small cell lung carcinoma sequence_alteration 1.567% (5/319) 2 entries
ENSG00000072501 breast ductal adenocarcinoma missense_variant 4.795% (28/584) 1 entry
ENSG00000072501 chronic lymphocytic leukemia missense_variant 0.4505% (4/888) 1 entry
ENSG00000072501 oral squamous cell carcinoma missense_variant 1.463% (3/205) 3 entries
ENSG00000072501 melanoma missense_variant 3.96% (4/101) 1 entry
ENSG00000072501 Mantle cell lymphoma missense_variant 3.261% (3/92) 2 entries
ENSG00000072501 chronic myelomonocytic leukemia missense_variant 2.649% (4/151) 2 entries
ENSG00000072501 colorectal adenocarcinoma missense_variant 3.866% (44/1138) 3 entries
ENSG00000072501 papillary renal cell carcinoma missense_variant 0.5634% (2/355) 1 entry
ENSG00000072501 brain glioblastoma sequence_alteration 0.8639% (8/926) 1 entry
ENSG00000072501 colon adenocarcinoma missense_variant 3.463% (25/722) 5 entries
ENSG00000072501 esophageal squamous cell carcinoma missense_variant 0.4444% (3/675) 1 entry
ENSG00000072501 head and neck squamous cell carcinoma missense_variant 0.1597% (1/626) 1 entry
ENSG00000072501 Kidney Oncocytoma stop_gained 6.25% (2/32) 1 entry
ENSG00000072501 Adamantinomatous Craniopharyngioma missense_variant 8.333% (1/12) 1 entry
ENSG00000072501 multiple myeloma missense_variant 2.222% (1/45) 1 entry
ENSG00000072501 colorectal adenocarcinoma frameshift_variant 3.866% (44/1138) 1 entry
ENSG00000072501 pharyngeal squamous cell carcinoma sequence_alteration 3.226% (1/31) 1 entry
ENSG00000072501 bronchoalveolar adenocarcinoma missense_variant 4.545% (1/22) 1 entry
ENSG00000072501 melanoma stop_gained 3.96% (4/101) 1 entry
ENSG00000072501 neoplasm of mature B-cells missense_variant 2.941% (1/34) 1 entry
ENSG00000072501 Kidney Oncocytoma missense_variant 6.25% (2/32) 1 entry
ENSG00000072501 bladder transitional cell carcinoma stop_gained 2.92% (4/137) 1 entry
ENSG00000072501 gastric intestinal type adenocarcinoma missense_variant 1.176% (1/85) 1 entry
ENSG00000072501 bronchoalveolar adenocarcinoma sequence_alteration 4.545% (1/22) 1 entry
ENSG00000072501 chromophobe renal cell carcinoma missense_variant 0.8696% (1/115) 1 entry
ENSG00000072501 Cervical Small Cell Carcinoma sequence_alteration 33.33% (2/6) 1 entry
ENSG00000072501 rectal adenocarcinoma frameshift_variant 1.357% (3/221) 1 entry
ENSG00000072501 colonic neoplasm missense_variant 6.667% (1/15) 1 entry
ENSG00000072501 Uterine Carcinosarcoma missense_variant 2.727% (3/110) 1 entry
ENSG00000072501 breast ductal adenocarcinoma conservative_inframe_deletion 4.795% (28/584) 1 entry
ENSG00000072501 esophageal adenocarcinoma missense_variant 0.4566% (2/438) 1 entry
ENSG00000072501 melanoma sequence_alteration 3.96% (4/101) 1 entry
ENSG00000072501 kidney Wilms tumor missense_variant 0.3135% (1/319) 1 entry
ENSG00000072501 Gallbladder Adenocarcinoma missense_variant 1.149% (1/87) 1 entry
ENSG00000072501 skin melanoma frameshift_variant 0.6205% (6/967) 1 entry
ENSG00000072501 pharyngeal squamous cell carcinoma missense_variant 3.226% (1/31) 1 entry
ENSG00000072501 large cell medulloblastoma missense_variant 5.263% (1/19) 1 entry
ENSG00000072501 Merkel cell skin cancer missense_variant 3.333% (1/30) 1 entry
ENSG00000072501 small cell lung carcinoma missense_variant 1.567% (5/319) 1 entry
ENSG00000072501 salivary gland adenoid cystic carcinoma missense_variant 1.961% (1/51) 1 entry
ENSG00000072501 lung adenocarcinoma sequence_alteration 0.6019% (7/1163) 1 entry
ENSG00000072501 bladder transitional cell carcinoma sequence_alteration 2.92% (4/137) 1 entry
ENSG00000072501 ependymoma conservative_inframe_deletion 2.174% (1/46) 1 entry
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000072501 SARC 0.0074 high
ENSG00000072501 STAD 0.0028 low
ENSG00000072501 CHOL 0.045 low
ENSG00000072501 PAAD 0.036 high
ENSG00000072501 UCEC 0.049 low
ENSG00000072501 ACC 0.029 high
ENSG00000072501 LGG 0.00011 high
ENSG00000072501 LUSC 0.049 low
ENSG00000072501 KIRP 0.033 high
ENSG00000072501 LUAD 0.026 high
ENSG00000072501 THYM 0.0015 low
ENSG00000072501 OV 0.028 high
ENSG00000072501 KIRC 0.00082 low
ENSG00000072501 LIHC 0.0013 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency