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Gene: CCDC47 |
Gene summary for CCDC47 |
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Gene information | Species | Human | Gene symbol | CCDC47 | Gene ID | 57003 |
Gene name | coiled-coil domain containing 47 | |
Gene Alias | GK001 | |
Cytomap | 17q23.3 | |
Gene Type | protein-coding | GO ID | GO:0001503 | UniProtAcc | Q96A33 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
57003 | CCDC47 | HTA11_78_2000001011 | Human | Colorectum | AD | 8.51e-06 | 4.42e-01 | -0.1088 |
57003 | CCDC47 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.57e-23 | 7.34e-01 | -0.1954 |
57003 | CCDC47 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.12e-05 | 4.41e-01 | 0.294 |
57003 | CCDC47 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 3.38e-05 | 5.76e-01 | 0.281 |
57003 | CCDC47 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 2.03e-04 | 3.79e-01 | 0.3859 |
57003 | CCDC47 | A015-C-203 | Human | Colorectum | FAP | 8.81e-03 | -8.02e-02 | -0.1294 |
57003 | CCDC47 | A015-C-104 | Human | Colorectum | FAP | 2.00e-03 | -9.47e-02 | -0.1899 |
57003 | CCDC47 | A002-C-016 | Human | Colorectum | FAP | 2.76e-02 | -5.82e-02 | 0.0521 |
57003 | CCDC47 | AEH-subject2 | Human | Endometrium | AEH | 1.10e-02 | -9.95e-02 | -0.2525 |
57003 | CCDC47 | EEC-subject3 | Human | Endometrium | EEC | 8.71e-08 | -6.46e-03 | -0.2525 |
57003 | CCDC47 | GSM5276934 | Human | Endometrium | EEC | 6.64e-14 | 4.21e-01 | -0.0913 |
57003 | CCDC47 | GSM5276937 | Human | Endometrium | EEC | 3.86e-15 | 5.06e-01 | -0.0897 |
57003 | CCDC47 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 1.50e-21 | 1.33e-02 | -0.1869 |
57003 | CCDC47 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 2.79e-18 | -2.14e-02 | -0.1875 |
57003 | CCDC47 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 1.96e-20 | -1.47e-01 | -0.1883 |
57003 | CCDC47 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 3.12e-11 | -4.02e-02 | -0.1934 |
57003 | CCDC47 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 1.81e-18 | -1.23e-01 | -0.1917 |
57003 | CCDC47 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 1.18e-23 | -9.98e-02 | -0.1916 |
57003 | CCDC47 | LZE4T | Human | Esophagus | ESCC | 4.22e-09 | 5.86e-01 | 0.0811 |
57003 | CCDC47 | LZE8T | Human | Esophagus | ESCC | 3.22e-04 | 2.15e-01 | 0.067 |
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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00069844 | Liver | Cirrhotic | ER-nucleus signaling pathway | 29/4634 | 46/18723 | 4.23e-08 | 1.36e-06 | 29 |
GO:00070292 | Liver | Cirrhotic | endoplasmic reticulum organization | 42/4634 | 87/18723 | 1.67e-06 | 3.22e-05 | 42 |
GO:00512053 | Liver | Cirrhotic | protein insertion into membrane | 29/4634 | 57/18723 | 1.88e-05 | 2.53e-04 | 29 |
GO:00016495 | Liver | Cirrhotic | osteoblast differentiation | 80/4634 | 229/18723 | 3.39e-04 | 2.91e-03 | 80 |
GO:00015035 | Liver | Cirrhotic | ossification | 127/4634 | 408/18723 | 1.89e-03 | 1.19e-02 | 127 |
GO:00324695 | Liver | Cirrhotic | endoplasmic reticulum calcium ion homeostasis | 13/4634 | 25/18723 | 3.05e-03 | 1.72e-02 | 13 |
GO:0045048 | Liver | Cirrhotic | protein insertion into ER membrane | 11/4634 | 22/18723 | 9.18e-03 | 4.21e-02 | 11 |
GO:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
GO:004316122 | Liver | HCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 299/7958 | 412/18723 | 7.82e-36 | 8.27e-33 | 299 |
GO:003497612 | Liver | HCC | response to endoplasmic reticulum stress | 189/7958 | 256/18723 | 1.43e-24 | 4.06e-22 | 189 |
GO:000645712 | Liver | HCC | protein folding | 160/7958 | 212/18723 | 1.07e-22 | 1.88e-20 | 160 |
GO:003650311 | Liver | HCC | ERAD pathway | 88/7958 | 107/18723 | 2.87e-17 | 2.85e-15 | 88 |
GO:00304331 | Liver | HCC | ubiquitin-dependent ERAD pathway | 72/7958 | 85/18723 | 9.78e-16 | 7.47e-14 | 72 |
GO:009015012 | Liver | HCC | establishment of protein localization to membrane | 168/7958 | 260/18723 | 4.07e-13 | 2.13e-11 | 168 |
GO:000702911 | Liver | HCC | endoplasmic reticulum organization | 64/7958 | 87/18723 | 3.92e-09 | 1.04e-07 | 64 |
GO:000698411 | Liver | HCC | ER-nucleus signaling pathway | 38/7958 | 46/18723 | 2.68e-08 | 6.17e-07 | 38 |
GO:005120511 | Liver | HCC | protein insertion into membrane | 41/7958 | 57/18723 | 6.42e-06 | 7.83e-05 | 41 |
GO:00450481 | Liver | HCC | protein insertion into ER membrane | 18/7958 | 22/18723 | 1.91e-04 | 1.49e-03 | 18 |
GO:003246911 | Liver | HCC | endoplasmic reticulum calcium ion homeostasis | 19/7958 | 25/18723 | 7.01e-04 | 4.31e-03 | 19 |
GO:00712166 | Liver | HCC | cellular response to biotic stimulus | 128/7958 | 246/18723 | 1.53e-03 | 8.10e-03 | 128 |
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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 |
CCDC47 | SNV | Missense_Mutation | c.1149G>T | p.Met383Ile | p.M383I | Q96A33 | protein_coding | deleterious(0.03) | benign(0.096) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
CCDC47 | insertion | Frame_Shift_Ins | novel | c.1312_1313insA | p.Arg438LysfsTer10 | p.R438Kfs*10 | Q96A33 | protein_coding | TCGA-A8-A07B-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
CCDC47 | SNV | Missense_Mutation | c.342C>G | p.Ser114Arg | p.S114R | Q96A33 | protein_coding | tolerated(0.48) | benign(0.104) | TCGA-C5-A2LX-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
CCDC47 | SNV | Missense_Mutation | novel | c.466N>A | p.Gly156Arg | p.G156R | Q96A33 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC47 | SNV | Missense_Mutation | c.72N>G | p.Asp24Glu | p.D24E | Q96A33 | protein_coding | tolerated(0.45) | benign(0) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
CCDC47 | SNV | Missense_Mutation | novel | c.654N>A | p.Met218Ile | p.M218I | Q96A33 | protein_coding | deleterious(0.01) | probably_damaging(0.988) | TCGA-MA-AA3Y-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC47 | SNV | Missense_Mutation | novel | c.1166N>A | p.Ser389Tyr | p.S389Y | Q96A33 | protein_coding | deleterious(0.03) | possibly_damaging(0.722) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
CCDC47 | insertion | Frame_Shift_Ins | novel | c.146_147dupCT | p.Val50LeufsTer10 | p.V50Lfs*10 | Q96A33 | protein_coding | TCGA-AA-3821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
CCDC47 | insertion | Frame_Shift_Ins | novel | c.347dupA | p.Asn116LysfsTer2 | p.N116Kfs*2 | Q96A33 | protein_coding | TCGA-CM-4746-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
CCDC47 | SNV | Missense_Mutation | novel | c.515N>T | p.Arg172Met | p.R172M | Q96A33 | protein_coding | deleterious(0) | possibly_damaging(0.6) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
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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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