Ensembl ID ENSG00000184702 Gene ID 5413 Accession 9164
Gene Symbol SEPTIN5 Alias H5;SEPT5;CDCREL;PNUTL1;CDCREL1;CDCREL-1;HCDCREL-1 Full Name septin 5
Position 22 : 19714503 - 19723319 Length 8817 bases Strand Plus strand
Status Confidence Main interacting RNAsN.A.RBP type Canonical_RBPs
Summary This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]

ENSG00000184702 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000184702 1.70 1.83e-52 KIRC
ENSG00000184702 0.62 1.10e-12 BRCA
ENSG00000184702 1.43 4.51e-20 LUSC
ENSG00000184702 0.85 3.52e-18 PRAD
ENSG00000184702 -3.1 7.42e-20 GBM
ENSG00000184702 3.48 1.54e-14 PCPG
ENSG00000184702 1.97 1.02e-23 LIHC
ENSG00000184702 -1.8 1.99e-16 STAD
ENSG00000184702 2.34 2.68e-11 CHOL
Ensembl ID Gene symbol Cancer types Pubmed ID
ENSG00000184702 tumor 11167005
ENSG00000184702 endocrine tumors 16179808
ENSG00000184702 cancers 19493342
ENSG00000184702 tumor 25287138
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
ENSG00000184702 acute myeloid leukemia gene_fusion 0.22% (2/909) 1 entry
ENSG00000184702 squamous cell lung carcinoma missense_variant 0.3636% (3/825) 1 entry
ENSG00000184702 colon adenocarcinoma sequence_alteration 1.964% (14/713) 3 entries
ENSG00000184702 lung adenocarcinoma missense_variant 0.6557% (8/1220) 3 entries
ENSG00000184702 gastric intestinal type adenocarcinoma missense_variant 3.529% (3/85) 2 entries
ENSG00000184702 metaplastic breast carcinoma missense_variant 3.922% (2/51) 1 entry
ENSG00000184702 colorectal adenocarcinoma sequence_alteration 1.583% (18/1137) 1 entry
ENSG00000184702 esophageal squamous cell carcinoma missense_variant 0.5926% (4/675) 3 entries
ENSG00000184702 clear cell renal carcinoma missense_variant 0.2177% (3/1378) 1 entry
ENSG00000184702 colon adenocarcinoma missense_variant 1.964% (14/713) 3 entries
ENSG00000184702 cecum adenocarcinoma sequence_alteration 2.4% (3/125) 1 entry
ENSG00000184702 prostate adenocarcinoma missense_variant 0.619% (9/1454) 1 entry
ENSG00000184702 skin melanoma missense_variant 0.6205% (6/967) 2 entries
ENSG00000184702 colon adenocarcinoma frameshift_variant 1.964% (14/713) 2 entries
ENSG00000184702 colorectal adenocarcinoma missense_variant 1.583% (18/1137) 2 entries
ENSG00000184702 lung adenocarcinoma sequence_alteration 0.6557% (8/1220) 1 entry
ENSG00000184702 acute lymphoblastic leukemia sequence_alteration 0.3115% (1/321) 1 entry
ENSG00000184702 clear cell renal carcinoma sequence_alteration 0.2177% (3/1378) 1 entry
ENSG00000184702 small cell lung carcinoma stop_gained 0.6192% (2/323) 1 entry
ENSG00000184702 cecum adenocarcinoma stop_gained 2.4% (3/125) 1 entry
ENSG00000184702 hepatocellular carcinoma sequence_alteration 0.2225% (2/899) 1 entry
ENSG00000184702 colon adenocarcinoma stop_gained 1.964% (14/713) 1 entry
ENSG00000184702 melanoma missense_variant 0.9901% (1/101) 1 entry
ENSG00000184702 small cell lung carcinoma missense_variant 0.6192% (2/323) 1 entry
ENSG00000184702 brain glioblastoma missense_variant 0.108% (1/926) 1 entry
ENSG00000184702 colon carcinoma missense_variant 12.5% (1/8) 1 entry
ENSG00000184702 large cell lung carcinoma missense_variant 5.556% (1/18) 1 entry
ENSG00000184702 ovarian serous adenocarcinoma frameshift_variant 0.1486% (1/673) 1 entry
ENSG00000184702 rectal adenocarcinoma missense_variant 0.4545% (1/220) 1 entry
ENSG00000184702 squamous cell lung carcinoma sequence_alteration 0.3636% (3/825) 1 entry
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000184702 MESO 0.03 high
ENSG00000184702 STAD 0.031 high
ENSG00000184702 CHOL 0.049 high
ENSG00000184702 PAAD 0.00094 low
ENSG00000184702 UCEC 0.021 low
ENSG00000184702 THCA 0.017 high
ENSG00000184702 LGG 0.0016 low
ENSG00000184702 READ 0.037 low
ENSG00000184702 KICH 0.042 high
ENSG00000184702 PCPG 0.001 high
ENSG00000184702 THYM 0.0099 low
ENSG00000184702 BRCA 0.049 low
ENSG00000184702 COAD 0.00068 high
ENSG00000184702 DLBC 0.0076 high
ENSG00000184702 BLCA 0.0034 high
ENSG00000184702 LAML 0.0044 low
ENSG00000184702 GBM 0.042 high
ENSG00000184702 SKCM 0.00091 high
ENSG00000184702 LIHC 0.02 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency