Ensembl ID ENSG00000130396 Gene ID 4301 Accession 7137
Gene Symbol AFDN Alias AF6;MLLT4;MLL-AF6;l-afadin Full Name afadin, adherens junction formation factor
Position 6 : 167826893 - 167972023 Length 145131 bases Strand Plus strand
Status Confidence Main interacting RNAsN.A.RBP type Non-canonical_RBPs
Summary This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]

ENSG00000130396 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000130396 -1.2 1.06e-31 HNSC
ENSG00000130396 -0.9 3.92e-29 LUSC
Ensembl ID Gene symbol Cancer types Pubmed ID
ENSG00000130396 AML 16630339
ENSG00000130396 breast cancer 16819513
ENSG00000130396 tumor 17474988
ENSG00000130396 tumor 17708782
ENSG00000130396 tumor 21478912
ENSG00000130396 AMLs 22553314
ENSG00000130396 acute myeloid leukemia (AML) 23114129
ENSG00000130396 breast cancer 24269953
ENSG00000130396 colon cancer 24373847
ENSG00000130396 AML 24602728
ENSG00000130396 AML 24695851
ENSG00000130396 colon cancer 25333284
ENSG00000130396 AML 25401297
ENSG00000130396 endometrial cancer 25879875
ENSG00000130396 cancer 25883953
ENSG00000130396 pancreatic cancer 26013125
ENSG00000130396 tumors 26568295
ENSG00000130396 breast cancer 26793002
ENSG00000130396 cancer 27135926
ENSG00000130396 tumours 27161491
ENSG00000130396 colorectal cancer 27601590
ENSG00000130396 AML 28064313
ENSG00000130396 cancer 28218910
ENSG00000130396 AML 28540746
ENSG00000130396 tumor 28619817
ENSG00000130396 gastric cancer 28927028
ENSG00000130396 AML 29225689
ENSG00000130396 Tumor 30349422
ENSG00000130396 pancreatic cancer 30473688
ENSG00000130396 GBM 30628650
ENSG00000130396 breast cancer 30692208
ENSG00000130396 epithelial ovarian cancer 8589040
ENSG00000130396 AML M1 8630416
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
ENSG00000130396 breast ductal adenocarcinoma frameshift_variant 10.79% (63/584) 2 entries
ENSG00000130396 colorectal adenocarcinoma frameshift_variant 8.436% (96/1138) 2 entries
ENSG00000130396 melanoma missense_variant 11.88% (12/101) 2 entries
ENSG00000130396 colorectal adenocarcinoma stop_gained 8.436% (96/1138) 2 entries
ENSG00000130396 colorectal adenocarcinoma missense_variant 8.436% (96/1138) 4 entries
ENSG00000130396 hemangioblastoma sequence_alteration 40.62% (13/32) 1 entry
ENSG00000130396 colorectal adenocarcinoma sequence_alteration 8.436% (96/1138) 1 entry
ENSG00000130396 breast ductal adenocarcinoma stop_gained 10.79% (63/584) 2 entries
ENSG00000130396 melanoma conservative_inframe_deletion 11.88% (12/101) 1 entry
ENSG00000130396 colon adenocarcinoma missense_variant 5.263% (38/722) 4 entries
ENSG00000130396 esophageal adenocarcinoma sequence_alteration 5.251% (23/438) 1 entry
ENSG00000130396 esophageal adenocarcinoma missense_variant 5.251% (23/438) 2 entries
ENSG00000130396 breast carcinoma sequence_alteration 1.488% (21/1411) 1 entry
ENSG00000130396 clear cell renal carcinoma missense_variant 1.379% (19/1378) 3 entries
ENSG00000130396 lung adenocarcinoma missense_variant 2.049% (25/1220) 4 entries
ENSG00000130396 female breast carcinoma missense_variant 1.023% (4/391) 2 entries
ENSG00000130396 hepatocellular carcinoma missense_variant 1.222% (11/900) 1 entry
ENSG00000130396 prostate adenocarcinoma missense_variant 4.127% (60/1454) 1 entry
ENSG00000130396 chronic lymphocytic leukemia sequence_alteration 1.014% (9/888) 1 entry
ENSG00000130396 clear cell renal carcinoma sequence_alteration 1.379% (19/1378) 1 entry
ENSG00000130396 prostate adenocarcinoma stop_gained 4.127% (60/1454) 1 entry
ENSG00000130396 pancreatic neuroendocrine tumor stop_gained 8.125% (13/160) 1 entry
ENSG00000130396 colon adenocarcinoma frameshift_variant 5.263% (38/722) 2 entries
ENSG00000130396 HER2 Positive Breast Carcinoma missense_variant 8.228% (13/158) 1 entry
ENSG00000130396 gastric intestinal type adenocarcinoma stop_gained 3.529% (3/85) 1 entry
ENSG00000130396 cecum adenocarcinoma missense_variant 8.8% (11/125) 2 entries
ENSG00000130396 rectal adenocarcinoma missense_variant 2.262% (5/221) 2 entries
ENSG00000130396 brain glioblastoma sequence_alteration 0.54% (5/926) 1 entry
ENSG00000130396 melanoma sequence_alteration 11.88% (12/101) 1 entry
ENSG00000130396 colon adenocarcinoma stop_gained 5.263% (38/722) 4 entries
ENSG00000130396 squamous cell lung carcinoma missense_variant 1.818% (15/825) 1 entry
ENSG00000130396 prostate carcinoma sequence_alteration 2.893% (14/484) 2 entries
ENSG00000130396 basal cell carcinoma missense_variant 10.34% (6/58) 1 entry
ENSG00000130396 T-cell acute lymphoblastic leukemia gene_fusion 2.332% (9/386) 3 entries
ENSG00000130396 bladder transitional cell carcinoma missense_variant 1.46% (2/137) 2 entries
ENSG00000130396 prostate carcinoma missense_variant 2.893% (14/484) 4 entries
ENSG00000130396 colon adenocarcinoma sequence_alteration 5.263% (38/722) 4 entries
ENSG00000130396 small cell lung carcinoma missense_variant 1.846% (6/325) 2 entries
ENSG00000130396 clear cell renal carcinoma stop_gained 1.379% (19/1378) 1 entry
ENSG00000130396 gastric adenocarcinoma sequence_alteration 3.405% (19/558) 1 entry
ENSG00000130396 pancreatic ductal adenocarcinoma missense_variant 3.177% (40/1259) 1 entry
ENSG00000130396 prostate adenocarcinoma sequence_alteration 4.127% (60/1454) 1 entry
ENSG00000130396 acute myeloid leukemia gene_fusion 3.66% (34/929) 7 entries
ENSG00000130396 skin melanoma missense_variant 2.482% (24/967) 4 entries
ENSG00000130396 skin melanoma stop_gained 2.482% (24/967) 1 entry
ENSG00000130396 colon adenocarcinoma conservative_inframe_deletion 5.263% (38/722) 2 entries
ENSG00000130396 esophageal squamous cell carcinoma missense_variant 1.331% (9/676) 6 entries
ENSG00000130396 brain glioblastoma missense_variant 0.54% (5/926) 2 entries
ENSG00000130396 cecum adenocarcinoma sequence_alteration 8.8% (11/125) 1 entry
ENSG00000130396 ependymoma sequence_alteration 2.174% (1/46) 1 entry
ENSG00000130396 ovarian serous adenocarcinoma stop_gained 0.4458% (3/673) 1 entry
ENSG00000130396 non-small cell lung carcinoma conservative_inframe_deletion 1.613% (1/62) 1 entry
ENSG00000130396 ovarian serous adenocarcinoma missense_variant 0.4458% (3/673) 1 entry
ENSG00000130396 angiosarcoma conservative_inframe_deletion 7.692% (1/13) 1 entry
ENSG00000130396 female breast carcinoma frameshift_variant 1.023% (4/391) 1 entry
ENSG00000130396 medulloblastoma sequence_alteration 4.167% (1/24) 1 entry
ENSG00000130396 T-cell acute lymphoblastic leukemia missense_variant 2.332% (9/386) 1 entry
ENSG00000130396 adenosquamous lung carcinoma stop_gained 9.091% (1/11) 1 entry
ENSG00000130396 esophageal squamous cell carcinoma frameshift_variant 1.331% (9/676) 1 entry
ENSG00000130396 cecum adenocarcinoma conservative_inframe_deletion 8.8% (11/125) 1 entry
ENSG00000130396 diffuse gastric adenocarcinoma missense_variant 1.266% (1/79) 1 entry
ENSG00000130396 hepatocellular carcinoma stop_gained 1.222% (11/900) 1 entry
ENSG00000130396 pharyngeal squamous cell carcinoma missense_variant 3.226% (1/31) 1 entry
ENSG00000130396 Chronic Eosinophilic Leukemia, Not Otherwise Specified gene_fusion 50.0% (1/2) 1 entry
ENSG00000130396 angiosarcoma sequence_alteration 7.692% (1/13) 1 entry
ENSG00000130396 basal cell carcinoma stop_gained 10.34% (6/58) 1 entry
ENSG00000130396 mucosal melanoma missense_variant 7.143% (1/14) 1 entry
ENSG00000130396 Thymoma Type B3 missense_variant 14.29% (1/7) 1 entry
ENSG00000130396 lung adenocarcinoma sequence_alteration 2.049% (25/1220) 1 entry
ENSG00000130396 metaplastic breast carcinoma missense_variant 1.961% (1/51) 1 entry
ENSG00000130396 bile duct adenocarcinoma missense_variant 0.5291% (1/189) 1 entry
ENSG00000130396 non-small cell lung carcinoma sequence_alteration 1.613% (1/62) 1 entry
ENSG00000130396 metaplastic breast carcinoma sequence_alteration 1.961% (1/51) 1 entry
ENSG00000130396 T-cell acute lymphoblastic leukemia sequence_alteration 2.332% (9/386) 1 entry
ENSG00000130396 osteosarcoma missense_variant 1.724% (2/116) 1 entry
ENSG00000130396 B-cell acute lymphoblastic leukemia gene_fusion 1.818% (1/55) 1 entry
ENSG00000130396 diffuse large B-cell lymphoma missense_variant 0.3279% (1/305) 1 entry
ENSG00000130396 nasopharyngeal squamous cell carcinoma sequence_alteration 0.5988% (1/167) 1 entry
ENSG00000130396 cecum adenocarcinoma stop_gained 8.8% (11/125) 1 entry
ENSG00000130396 nasopharyngeal squamous cell carcinoma conservative_inframe_deletion 0.5988% (1/167) 1 entry
ENSG00000130396 lung adenocarcinoma frameshift_variant 2.049% (25/1220) 1 entry
ENSG00000130396 basal cell carcinoma sequence_alteration 10.34% (6/58) 1 entry
ENSG00000130396 Thyroid Gland Oncocytic Follicular Carcinoma missense_variant 50.0% (1/2) 1 entry
ENSG00000130396 salivary gland adenoid cystic carcinoma frameshift_variant 1.587% (1/63) 1 entry
ENSG00000130396 Breast Carcinoma by Gene Expression Profile missense_variant 5.263% (1/19) 1 entry
ENSG00000130396 osteosarcoma sequence_alteration 1.724% (2/116) 1 entry
ENSG00000130396 female breast carcinoma sequence_alteration 1.023% (4/391) 1 entry
ENSG00000130396 ACTH-Producing Pituitary Gland Adenoma missense_variant 9.091% (1/11) 1 entry
ENSG00000130396 small cell lung carcinoma sequence_alteration 1.846% (6/325) 1 entry
ENSG00000130396 Cervical Small Cell Carcinoma sequence_alteration 16.67% (1/6) 1 entry
ENSG00000130396 primary peritoneal carcinoma (disease) frameshift_variant 100.0% (1/1) 1 entry
ENSG00000130396 acute myeloid leukemia frameshift_variant 3.66% (34/929) 1 entry
ENSG00000130396 skin melanoma sequence_alteration 2.482% (24/967) 1 entry
ENSG00000130396 Cervical Small Cell Carcinoma missense_variant 16.67% (1/6) 1 entry
ENSG00000130396 lung adenocarcinoma stop_gained 2.049% (25/1220) 1 entry
ENSG00000130396 T-cell acute lymphoblastic leukemia stop_gained 2.332% (9/386) 1 entry
ENSG00000130396 gastric intestinal type adenocarcinoma missense_variant 3.529% (3/85) 1 entry
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000130396 MESO 0.0029 high
ENSG00000130396 SARC 0.035 high
ENSG00000130396 STAD 0.0045 low
ENSG00000130396 CHOL 0.045 low
ENSG00000130396 UCEC 0.02 low
ENSG00000130396 ACC 0.0063 low
ENSG00000130396 LGG 0.0064 high
ENSG00000130396 LUSC 0.026 high
ENSG00000130396 READ 0.014 low
ENSG00000130396 LUAD 0.028 low
ENSG00000130396 THYM 0.011 low
ENSG00000130396 COAD 0.04 low
ENSG00000130396 UCS 0.047 high
ENSG00000130396 OV 0.001 high
ENSG00000130396 KIRC 0.0028 low
ENSG00000130396 BLCA 0.049 low
ENSG00000130396 LAML 0.045 high
ENSG00000130396 GBM 0.039 low
ENSG00000130396 SKCM 0.018 high
ENSG00000130396 CESC 0.0026 high
ENSG00000130396 LIHC 0.003 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency
ENSG00000130396 CHOL Del 0.805889 0.213523 0.650057 0.694444
ENSG00000130396 LUAD Del 2.081038 0.068190 0.380268 0.494186
ENSG00000130396 CESC Del 3.817466 0.115605 0.498047 0.342373
ENSG00000130396 SKCM Del 5.951015 0.132160 0.559261 0.588556
ENSG00000130396 LIHC Del 7.010725 0.141037 0.628005 0.367568
ENSG00000130396 BRCA Del 21.412977 0.152874 0.492271 0.346296
ENSG00000130396 STAD Del 2.430118 0.083715 0.361846 0.215420
ENSG00000130396 UCEC Del 1.516974 0.058250 0.467536 0.090909
ENSG00000130396 KIRC Del 6.900850 0.054543 0.464569 0.285985
ENSG00000130396 UVM Del 0.831618 0.060899 0.837266 0.300000
ENSG00000130396 OV Del 36.838286 0.491774 0.664339 0.663212