Ensembl ID ENSG00000160213 Gene ID 1476 Accession 2482
Gene Symbol CSTB Alias PME;ULD;CST6;EPM1;STFB;CPI-B;EPM1A Full Name cystatin B
Position 21 : 43772511 - 43776318 Length 3808 bases Strand Minus strand
Status Confidence Main interacting RNAsN.A.RBP type Non-canonical_RBPs
Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]

ENSG00000160213 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000160213 CSTB -1.8 3.83e-19 HNSC
ENSG00000160213 CSTB 0.71 1.90e-13 BRCA
ENSG00000160213 CSTB 1.06 8.44e-12 LUSC
ENSG00000160213 CSTB 1.13 5.23e-12 KIRP
ENSG00000160213 CSTB -2.8 8.08e-26 STAD
ENSG00000160213 CSTB 1.81 3.22e-32 UCEC
Ensembl ID Gene symbol Cancer types Pubmed ID
ENSG00000160213 CSTB colorectal cancer 10690531
ENSG00000160213 CSTB GBM 12655603
ENSG00000160213 CSTB tumor 15832773
ENSG00000160213 CSTB tumor 18440302
ENSG00000160213 CSTB tumor 18760426
ENSG00000160213 CSTB bladder cancer 19188175
ENSG00000160213 CSTB tumor 19212623
ENSG00000160213 CSTB lung cancer 19423321
ENSG00000160213 CSTB tumors 19747051
ENSG00000160213 CSTB breast cancer 23955077
ENSG00000160213 CSTB ovarian cancer 23986888
ENSG00000160213 CSTB benign tumors 24452274
ENSG00000160213 CSTB tumours 24722184
ENSG00000160213 CSTB breast cancer 25134718
ENSG00000160213 CSTB GBM 25356585
ENSG00000160213 CSTB tumor 26753874
ENSG00000160213 CSTB Cancer 26848396
ENSG00000160213 CSTB cancer 26911362
ENSG00000160213 CSTB tumours 26983758
ENSG00000160213 CSTB tumor 2785014
ENSG00000160213 CSTB Gastric Cancer 28281969
ENSG00000160213 CSTB ovarian tumors 28560285
ENSG00000160213 CSTB cancer 28631213
ENSG00000160213 CSTB tumour 28766361
ENSG00000160213 CSTB lung cancer 29037838
ENSG00000160213 CSTB tumor 30185791
ENSG00000160213 CSTB pancreatic cancer 30906545
ENSG00000160213 CSTB tumor 31115549
ENSG00000160213 CSTB ovarian malignant tumors 31180557
ENSG00000160213 CSTB tumour 31409108
ENSG00000160213 CSTB tumor 4323477
ENSG00000160213 CSTB tumour 7576236
ENSG00000160213 CSTB tumor 8033073
ENSG00000160213 CSTB tumours 8839984
ENSG00000160213 CSTB tumor 9065652
ENSG00000160213 CSTB lung tumor 9330706
ENSG00000160213 CSTB tumor 9583733
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000160213 CSTB PAAD 0.014 high
ENSG00000160213 CSTB UCEC 0.044 low
ENSG00000160213 CSTB ACC 0.023 high
ENSG00000160213 CSTB LUAD 0.017 high
ENSG00000160213 CSTB PCPG 0.0019 high
ENSG00000160213 CSTB THYM 0.0049 high
ENSG00000160213 CSTB COAD 0.0041 high
ENSG00000160213 CSTB LAML 0.00018 high
ENSG00000160213 CSTB GBM 0.022 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency
ENSG00000160213 CSTB LAML Amp 3.675883 0.103872 1.137745 0.068063
ENSG00000160213 CSTB READ Del 0.732265 0.073489 0.466233 0.424242
ENSG00000160213 CSTB STAD Del 1.716120 0.074877 0.386610 0.435374
ENSG00000160213 CSTB OV Del 1.106976 0.184368 0.557793 0.386874