Ensembl ID ENSG00000172493 Gene ID 4299 Accession 7135
Gene Symbol AFF1 Alias AF4;FEL;PBM1;MLLT2 Full Name ALF transcription elongation factor 1
Position 4 : 86935011 - 87141039 Length 206029 bases Strand Plus strand
Status Confidence Main interacting RNAsmRNARBP type Canonical_RBPs
Summary This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

ENSG00000172493 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000172493 AFF1 -0.6 1.54e-20 BRCA
ENSG00000172493 AFF1 -0.8 2.41e-12 COAD
ENSG00000172493 AFF1 -0.9 7.24e-26 LUSC
Ensembl ID Gene symbol Cancer types Pubmed ID
ENSG00000172493 AFF1 AML 11896540
ENSG00000172493 AFF1 Wilms' tumor 12613515
ENSG00000172493 AFF1 tumours 16607274
ENSG00000172493 AFF1 AML 18665825
ENSG00000172493 AFF1 Cancer 18977321
ENSG00000172493 AFF1 acute myeloid leukemias (AML) 18977325
ENSG00000172493 AFF1 tumor 19995953
ENSG00000172493 AFF1 pediatric AML 20051780
ENSG00000172493 AFF1 tumor 20350423
ENSG00000172493 AFF1 acute myeloid leukemia (AML) 20686504
ENSG00000172493 AFF1 acute myeloid leukemia (AML) 21436736
ENSG00000172493 AFF1 tumor 21706045
ENSG00000172493 AFF1 tumor 22025528
ENSG00000172493 AFF1 cancer 22337994
ENSG00000172493 AFF1 prostate cancer 22342699
ENSG00000172493 AFF1 cancer 22547686
ENSG00000172493 AFF1 cancer 22570686
ENSG00000172493 AFF1 lung cancer 22616828
ENSG00000172493 AFF1 acute myeloid leukemia (AML) 23114129
ENSG00000172493 AFF1 AML 24621554
ENSG00000172493 AFF1 Cancer 24735921
ENSG00000172493 AFF1 tumor 24735925
ENSG00000172493 AFF1 AML-M5 24842373
ENSG00000172493 AFF1 liver cancer 25256427
ENSG00000172493 AFF1 acute myeloid leukemia (AML) 25477897
ENSG00000172493 AFF1 Cancer 26410102
ENSG00000172493 AFF1 cancer 26630397
ENSG00000172493 AFF1 tumour 27317766
ENSG00000172493 AFF1 cancer 27406404
ENSG00000172493 AFF1 tumor 27899596
ENSG00000172493 AFF1 AML 28064313
ENSG00000172493 AFF1 primary cancer 28076841
ENSG00000172493 AFF1 acute myeloid leukemia (AML) 28114278
ENSG00000172493 AFF1 tumor 28646023
ENSG00000172493 AFF1 fibroepithelial tumors 28721388
ENSG00000172493 AFF1 hematological cancer 28741798
ENSG00000172493 AFF1 cancer 28819864
ENSG00000172493 AFF1 tumor 29088854
ENSG00000172493 AFF1 AML 29164065
ENSG00000172493 AFF1 AML 29225689
ENSG00000172493 AFF1 cancer 29730189
ENSG00000172493 AFF1 cancer 29965044
ENSG00000172493 AFF1 cancer 30211320
ENSG00000172493 AFF1 cancer 30679323
ENSG00000172493 AFF1 AML 31213012
ENSG00000172493 AFF1 tumours 31411343
ENSG00000172493 AFF1 breast cancer 31540221
ENSG00000172493 AFF1 tumor 31623653
ENSG00000172493 AFF1 phyllodes tumors 31647027
ENSG00000172493 AFF1 AML 31723831
ENSG00000172493 AFF1 brain tumors 3905026
ENSG00000172493 AFF1 tumor 8378328
ENSG00000172493 AFF1 Cancer 9250788
ENSG00000172493 AFF1 cancer 9299237
ENSG00000172493 AFF1 tumour 9359509
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
ENSG00000172493 AFF1 acute lymphoblastic leukemia gene_fusion 74.01% (914/1235) 20 entries
ENSG00000172493 AFF1 B-cell acute lymphoblastic leukemia gene_fusion 96.55% (1483/1536) 19 entries
ENSG00000172493 AFF1 chronic myelogenous leukemia gene_fusion 34.15% (14/41) 1 entry
ENSG00000172493 AFF1 acute myeloid leukemia gene_fusion 1.095% (10/913) 4 entries
ENSG00000172493 AFF1 acute leukemia of ambiguous lineage gene_fusion 3.488% (3/86) 2 entries
ENSG00000172493 AFF1 T-cell acute lymphoblastic leukemia gene_fusion 6.604% (42/636) 2 entries
ENSG00000172493 AFF1 pancreatic ductal adenocarcinoma missense_variant 5.004% (63/1259) 1 entry
ENSG00000172493 AFF1 cecum adenocarcinoma missense_variant 9.848% (13/132) 1 entry
ENSG00000172493 AFF1 colon adenocarcinoma frameshift_variant 7.922% (61/770) 3 entries
ENSG00000172493 AFF1 colon adenocarcinoma sequence_alteration 7.922% (61/770) 3 entries
ENSG00000172493 AFF1 small cell lung carcinoma stop_gained 0.625% (2/320) 2 entries
ENSG00000172493 AFF1 colorectal adenocarcinoma sequence_alteration 6.327% (72/1138) 1 entry
ENSG00000172493 AFF1 colorectal adenocarcinoma frameshift_variant 6.327% (72/1138) 1 entry
ENSG00000172493 AFF1 Merkel cell skin cancer stop_gained 13.33% (4/30) 2 entries
ENSG00000172493 AFF1 clear cell renal carcinoma missense_variant 0.7983% (11/1378) 2 entries
ENSG00000172493 AFF1 cecum adenocarcinoma sequence_alteration 9.848% (13/132) 1 entry
ENSG00000172493 AFF1 Merkel cell skin cancer missense_variant 13.33% (4/30) 2 entries
ENSG00000172493 AFF1 melanoma sequence_alteration 4.95% (5/101) 2 entries
ENSG00000172493 AFF1 hemangioblastoma sequence_alteration 12.5% (4/32) 1 entry
ENSG00000172493 AFF1 bladder transitional cell carcinoma missense_variant 1.46% (2/137) 1 entry
ENSG00000172493 AFF1 skin melanoma missense_variant 2.068% (20/967) 5 entries
ENSG00000172493 AFF1 prostate carcinoma sequence_alteration 3.052% (13/426) 1 entry
ENSG00000172493 AFF1 squamous cell lung carcinoma missense_variant 1.575% (12/762) 1 entry
ENSG00000172493 AFF1 prostate adenocarcinoma sequence_alteration 6.19% (90/1454) 1 entry
ENSG00000172493 AFF1 lung adenocarcinoma missense_variant 1.118% (13/1163) 4 entries
ENSG00000172493 AFF1 esophageal squamous cell carcinoma missense_variant 1.185% (8/675) 4 entries
ENSG00000172493 AFF1 rectal adenocarcinoma sequence_alteration 5.677% (13/229) 1 entry
ENSG00000172493 AFF1 chronic lymphocytic leukemia sequence_alteration 1.014% (9/888) 1 entry
ENSG00000172493 AFF1 gastric intestinal type adenocarcinoma frameshift_variant 2.353% (2/85) 2 entries
ENSG00000172493 AFF1 colorectal adenocarcinoma missense_variant 6.327% (72/1138) 2 entries
ENSG00000172493 AFF1 rectal adenocarcinoma missense_variant 5.677% (13/229) 1 entry
ENSG00000172493 AFF1 esophageal adenocarcinoma missense_variant 9.132% (40/438) 1 entry
ENSG00000172493 AFF1 prostate carcinoma missense_variant 3.052% (13/426) 1 entry
ENSG00000172493 AFF1 esophageal adenocarcinoma sequence_alteration 9.132% (40/438) 1 entry
ENSG00000172493 AFF1 oral squamous cell carcinoma missense_variant 1.456% (3/206) 3 entries
ENSG00000172493 AFF1 head and neck squamous cell carcinoma missense_variant 2.875% (18/626) 1 entry
ENSG00000172493 AFF1 prostate adenocarcinoma missense_variant 6.19% (90/1454) 2 entries
ENSG00000172493 AFF1 hepatocellular carcinoma missense_variant 2.442% (22/901) 1 entry
ENSG00000172493 AFF1 metaplastic breast carcinoma missense_variant 3.922% (2/51) 1 entry
ENSG00000172493 AFF1 papillary renal cell carcinoma missense_variant 0.597% (2/335) 1 entry
ENSG00000172493 AFF1 melanoma missense_variant 4.95% (5/101) 1 entry
ENSG00000172493 AFF1 breast ductal adenocarcinoma sequence_alteration 12.16% (75/617) 1 entry
ENSG00000172493 AFF1 female breast carcinoma missense_variant 2.247% (6/267) 1 entry
ENSG00000172493 AFF1 clear cell renal carcinoma sequence_alteration 0.7983% (11/1378) 1 entry
ENSG00000172493 AFF1 basal cell carcinoma missense_variant 6.897% (4/58) 1 entry
ENSG00000172493 AFF1 bile duct adenocarcinoma missense_variant 1.587% (3/189) 2 entries
ENSG00000172493 AFF1 adrenal cortex carcinoma missense_variant 1.22% (2/164) 1 entry
ENSG00000172493 AFF1 colon adenocarcinoma missense_variant 7.922% (61/770) 3 entries
ENSG00000172493 AFF1 brain glioblastoma sequence_alteration 0.9719% (9/926) 3 entries
ENSG00000172493 AFF1 breast ductal adenocarcinoma missense_variant 12.16% (75/617) 1 entry
ENSG00000172493 AFF1 Invasive Breast Carcinoma missense_variant 2.222% (1/45) 1 entry
ENSG00000172493 AFF1 diffuse gastric adenocarcinoma sequence_alteration 1.266% (1/79) 1 entry
ENSG00000172493 AFF1 non-small cell lung carcinoma frameshift_variant 1.887% (1/53) 1 entry
ENSG00000172493 AFF1 lung adenocarcinoma sequence_alteration 1.118% (13/1163) 1 entry
ENSG00000172493 AFF1 colorectal adenocarcinoma stop_gained 6.327% (72/1138) 1 entry
ENSG00000172493 AFF1 diffuse large B-cell lymphoma missense_variant 0.6601% (2/303) 1 entry
ENSG00000172493 AFF1 lung carcinoid tumor missense_variant 9.091% (1/11) 1 entry
ENSG00000172493 AFF1 bile duct adenocarcinoma stop_gained 1.587% (3/189) 1 entry
ENSG00000172493 AFF1 clear cell renal carcinoma frameshift_variant 0.7983% (11/1378) 1 entry
ENSG00000172493 AFF1 breast ductal adenocarcinoma stop_gained 12.16% (75/617) 1 entry
ENSG00000172493 AFF1 lung adenocarcinoma frameshift_variant 1.118% (13/1163) 1 entry
ENSG00000172493 AFF1 Cortisol-Producing Adrenal Cortex Adenoma missense_variant 0.8065% (1/124) 1 entry
ENSG00000172493 AFF1 skin melanoma sequence_alteration 2.068% (20/967) 1 entry
ENSG00000172493 AFF1 Pancreatic Acinar Cell Carcinoma missense_variant 5.0% (1/20) 1 entry
ENSG00000172493 AFF1 melanoma stop_gained 4.95% (5/101) 1 entry
ENSG00000172493 AFF1 kidney Wilms tumor sequence_alteration 0.3135% (1/319) 1 entry
ENSG00000172493 AFF1 rectal adenocarcinoma stop_gained 5.677% (13/229) 1 entry
ENSG00000172493 AFF1 Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor conservative_inframe_deletion 3.704% (1/27) 1 entry
ENSG00000172493 AFF1 cecum adenocarcinoma stop_gained 9.848% (13/132) 1 entry
ENSG00000172493 AFF1 Adrenal Gland Neuroblastoma missense_variant 9.091% (1/11) 1 entry
ENSG00000172493 AFF1 Mantle cell lymphoma sequence_alteration 2.439% (1/41) 1 entry
ENSG00000172493 AFF1 alveolar rhabdomyosarcoma missense_variant 1.695% (1/59) 1 entry
ENSG00000172493 AFF1 Endometrial Clear Cell Adenocarcinoma missense_variant 8.333% (1/12) 1 entry
ENSG00000172493 AFF1 nasopharyngeal squamous cell carcinoma missense_variant 0.5988% (1/167) 1 entry
ENSG00000172493 AFF1 cecum adenocarcinoma frameshift_variant 9.848% (13/132) 1 entry
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000172493 AFF1 MESO 0.0035 low
ENSG00000172493 AFF1 STAD 0.022 high
ENSG00000172493 AFF1 UVM 0.029 low
ENSG00000172493 AFF1 ACC 0.0046 low
ENSG00000172493 AFF1 LUSC 0.0089 high
ENSG00000172493 AFF1 HNSC 0.015 low
ENSG00000172493 AFF1 READ 0.008 low
ENSG00000172493 AFF1 KIRP 0.034 high
ENSG00000172493 AFF1 KICH 0.0014 high
ENSG00000172493 AFF1 THYM 0.026 low
ENSG00000172493 AFF1 COAD 0.019 low
ENSG00000172493 AFF1 OV 0.0033 high
ENSG00000172493 AFF1 PRAD 0.0022 high
ENSG00000172493 AFF1 BLCA 0.029 low
ENSG00000172493 AFF1 SKCM 0.0093 low
ENSG00000172493 AFF1 CESC 0.041 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency
ENSG00000172493 AFF1 LIHC Del 4.660528 0.117921 0.558570 0.462162
ENSG00000172493 AFF1 STAD Del 2.058522 0.079296 0.337967 0.412698
ENSG00000172493 AFF1 OV Del 3.082498 0.220644 0.619508 0.651123