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Gene: CCBE1 |
Gene summary for CCBE1 |
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Gene information | Species | Human | Gene symbol | CCBE1 | Gene ID | 147372 |
Gene name | collagen and calcium binding EGF domains 1 | |
Gene Alias | HKLLS1 | |
Cytomap | 18q21.32 | |
Gene Type | protein-coding | GO ID | GO:0001525 | UniProtAcc | Q6UXH8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
147372 | CCBE1 | HCC1 | Human | Liver | HCC | 1.86e-19 | 1.65e+00 | 0.5336 |
147372 | CCBE1 | HCC2 | Human | Liver | HCC | 7.68e-30 | 2.49e+00 | 0.5341 |
147372 | CCBE1 | HCC5 | Human | Liver | HCC | 3.46e-38 | 2.21e+00 | 0.4932 |
147372 | CCBE1 | S014 | Human | Liver | HCC | 4.80e-06 | 3.86e-01 | 0.2254 |
147372 | CCBE1 | S015 | Human | Liver | HCC | 1.19e-03 | 3.77e-01 | 0.2375 |
147372 | CCBE1 | S016 | Human | Liver | HCC | 6.66e-04 | 3.90e-01 | 0.2243 |
147372 | CCBE1 | ATC09 | Human | Thyroid | ATC | 5.47e-05 | 3.43e-01 | 0.2871 |
147372 | CCBE1 | ATC11 | Human | Thyroid | ATC | 5.35e-04 | 4.03e-01 | 0.3386 |
147372 | CCBE1 | ATC12 | Human | Thyroid | ATC | 1.15e-03 | 1.46e-01 | 0.34 |
147372 | CCBE1 | ATC13 | Human | Thyroid | ATC | 5.43e-04 | 1.50e-01 | 0.34 |
147372 | CCBE1 | ATC1 | Human | Thyroid | ATC | 8.73e-06 | 4.24e-01 | 0.2878 |
147372 | CCBE1 | ATC2 | Human | Thyroid | ATC | 1.28e-23 | 1.76e+00 | 0.34 |
147372 | CCBE1 | ATC3 | Human | Thyroid | ATC | 5.97e-08 | 4.23e-01 | 0.338 |
147372 | CCBE1 | ATC4 | Human | Thyroid | ATC | 7.10e-07 | 1.93e-01 | 0.34 |
147372 | CCBE1 | ATC5 | Human | Thyroid | ATC | 5.43e-04 | 1.70e-01 | 0.34 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004586222 | Liver | HCC | positive regulation of proteolysis | 232/7958 | 372/18723 | 5.66e-15 | 3.98e-13 | 232 |
GO:005160412 | Liver | HCC | protein maturation | 171/7958 | 294/18723 | 3.80e-08 | 8.30e-07 | 171 |
GO:001648511 | Liver | HCC | protein processing | 121/7958 | 225/18723 | 4.01e-04 | 2.71e-03 | 121 |
GO:003032311 | Liver | HCC | respiratory tube development | 95/7958 | 181/18723 | 4.15e-03 | 1.81e-02 | 95 |
GO:19033171 | Liver | HCC | regulation of protein maturation | 39/7958 | 67/18723 | 6.84e-03 | 2.74e-02 | 39 |
GO:003032411 | Liver | HCC | lung development | 91/7958 | 177/18723 | 1.01e-02 | 3.80e-02 | 91 |
GO:00706131 | Liver | HCC | regulation of protein processing | 37/7958 | 65/18723 | 1.33e-02 | 4.77e-02 | 37 |
GO:000166721 | Liver | HCC | ameboidal-type cell migration | 226/7958 | 475/18723 | 1.35e-02 | 4.81e-02 | 226 |
GO:004586234 | Thyroid | ATC | positive regulation of proteolysis | 202/6293 | 372/18723 | 1.07e-16 | 9.42e-15 | 202 |
GO:000166731 | Thyroid | ATC | ameboidal-type cell migration | 228/6293 | 475/18723 | 3.72e-11 | 1.22e-09 | 228 |
GO:001063131 | Thyroid | ATC | epithelial cell migration | 169/6293 | 357/18723 | 4.21e-08 | 7.69e-07 | 169 |
GO:009013031 | Thyroid | ATC | tissue migration | 171/6293 | 365/18723 | 8.55e-08 | 1.47e-06 | 171 |
GO:009013231 | Thyroid | ATC | epithelium migration | 169/6293 | 360/18723 | 8.57e-08 | 1.47e-06 | 169 |
GO:001063432 | Thyroid | ATC | positive regulation of epithelial cell migration | 92/6293 | 176/18723 | 2.38e-07 | 3.70e-06 | 92 |
GO:003032321 | Thyroid | ATC | respiratory tube development | 93/6293 | 181/18723 | 5.67e-07 | 8.02e-06 | 93 |
GO:001063231 | Thyroid | ATC | regulation of epithelial cell migration | 137/6293 | 292/18723 | 1.44e-06 | 1.77e-05 | 137 |
GO:003032421 | Thyroid | ATC | lung development | 90/6293 | 177/18723 | 1.53e-06 | 1.88e-05 | 90 |
GO:006054121 | Thyroid | ATC | respiratory system development | 100/6293 | 203/18723 | 2.66e-06 | 3.08e-05 | 100 |
GO:009028721 | Thyroid | ATC | regulation of cellular response to growth factor stimulus | 140/6293 | 304/18723 | 3.91e-06 | 4.33e-05 | 140 |
GO:0051604110 | Thyroid | ATC | protein maturation | 136/6293 | 294/18723 | 4.00e-06 | 4.42e-05 | 136 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
CCBE1 | SNV | Missense_Mutation | novel | c.608A>G | p.Lys203Arg | p.K203R | Q6UXH8 | protein_coding | tolerated(0.06) | benign(0.396) | TCGA-77-7465-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CCBE1 | SNV | Missense_Mutation | novel | c.782N>A | p.Pro261Gln | p.P261Q | Q6UXH8 | protein_coding | deleterious(0.01) | probably_damaging(0.962) | TCGA-92-7340-01 | Lung | lung squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
CCBE1 | SNV | Missense_Mutation | c.1216N>T | p.Pro406Ser | p.P406S | Q6UXH8 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.879) | TCGA-94-A5I4-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | PD | |
CCBE1 | SNV | Missense_Mutation | novel | c.185C>G | p.Ser62Cys | p.S62C | Q6UXH8 | protein_coding | tolerated(0.09) | benign(0.241) | TCGA-CR-6481-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | paclitaxel | SD |
CCBE1 | SNV | Missense_Mutation | rs755658403 | c.244N>T | p.Leu82Phe | p.L82F | Q6UXH8 | protein_coding | tolerated(0.12) | benign(0.012) | TCGA-CV-7406-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CCBE1 | SNV | Missense_Mutation | novel | c.548A>G | p.Asp183Gly | p.D183G | Q6UXH8 | protein_coding | tolerated(0.34) | benign(0.025) | TCGA-VN-A88N-01 | Prostate | prostate adenocarcinoma | Male | <65 | 7 | Unknown | Unknown | SD |
CCBE1 | SNV | Missense_Mutation | c.983N>A | p.Ser328Tyr | p.S328Y | Q6UXH8 | protein_coding | deleterious(0.01) | possibly_damaging(0.897) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD | |
CCBE1 | SNV | Missense_Mutation | c.994C>T | p.Pro332Ser | p.P332S | Q6UXH8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BR-4280-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
CCBE1 | SNV | Missense_Mutation | rs199902030 | c.1006N>A | p.Asp336Asn | p.D336N | Q6UXH8 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-RD-A8N6-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
CCBE1 | SNV | Missense_Mutation | novel | c.476N>A | p.Cys159Tyr | p.C159Y | Q6UXH8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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