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Gene: HSD17B12 |
Gene summary for HSD17B12 |
Gene summary. |
Gene information | Species | Human | Gene symbol | HSD17B12 | Gene ID | 51144 |
Gene name | hydroxysteroid 17-beta dehydrogenase 12 | |
Gene Alias | KAR | |
Cytomap | 11p11.2 | |
Gene Type | protein-coding | GO ID | GO:0006082 | UniProtAcc | Q53GQ0 |
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Malignant transformation analysis |
Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
Malignant transformation involving gene list. |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
51144 | HSD17B12 | CA_HPV_1 | Human | Cervix | CC | 8.79e-05 | -2.47e-01 | 0.0264 |
51144 | HSD17B12 | CCI_1 | Human | Cervix | CC | 4.46e-04 | -5.02e-01 | 0.528 |
51144 | HSD17B12 | CCI_3 | Human | Cervix | CC | 5.56e-03 | -4.46e-01 | 0.516 |
51144 | HSD17B12 | CCII_1 | Human | Cervix | CC | 7.66e-13 | -5.23e-01 | 0.3249 |
51144 | HSD17B12 | sample1 | Human | Cervix | CC | 1.04e-02 | -4.21e-01 | 0.0959 |
51144 | HSD17B12 | H2 | Human | Cervix | HSIL_HPV | 2.00e-02 | -2.34e-01 | 0.0632 |
51144 | HSD17B12 | T1 | Human | Cervix | CC | 2.80e-09 | -4.29e-01 | 0.0918 |
51144 | HSD17B12 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.46e-44 | -1.00e+00 | 0.0155 |
51144 | HSD17B12 | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.54e-24 | -9.35e-01 | -0.1808 |
51144 | HSD17B12 | HTA11_2951_2000001011 | Human | Colorectum | AD | 2.70e-03 | -7.99e-01 | 0.0216 |
51144 | HSD17B12 | HTA11_1938_2000001011 | Human | Colorectum | AD | 5.19e-12 | -7.97e-01 | -0.0811 |
51144 | HSD17B12 | HTA11_78_2000001011 | Human | Colorectum | AD | 8.12e-15 | -7.05e-01 | -0.1088 |
51144 | HSD17B12 | HTA11_347_2000001011 | Human | Colorectum | AD | 9.95e-15 | -5.57e-01 | -0.1954 |
51144 | HSD17B12 | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.37e-04 | -8.72e-01 | -0.2196 |
51144 | HSD17B12 | HTA11_3361_2000001011 | Human | Colorectum | AD | 3.32e-20 | -9.64e-01 | -0.1207 |
51144 | HSD17B12 | HTA11_83_2000001011 | Human | Colorectum | SER | 3.58e-13 | -8.33e-01 | -0.1526 |
51144 | HSD17B12 | HTA11_696_2000001011 | Human | Colorectum | AD | 6.51e-43 | -8.88e-01 | -0.1464 |
51144 | HSD17B12 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.64e-44 | -9.07e-01 | -0.1001 |
51144 | HSD17B12 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.20e-28 | -8.56e-01 | -0.059 |
51144 | HSD17B12 | HTA11_2992_2000001011 | Human | Colorectum | SER | 3.14e-04 | -6.95e-01 | -0.1706 |
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Transcriptomic changes along malignancy continuum. |
∗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 |
Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
Figure of enriched GO biological processes. |
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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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0035384 | Liver | Cirrhotic | thioester biosynthetic process | 19/4634 | 45/18723 | 7.53e-03 | 3.57e-02 | 19 |
GO:0071616 | Liver | Cirrhotic | acyl-CoA biosynthetic process | 19/4634 | 45/18723 | 7.53e-03 | 3.57e-02 | 19 |
GO:000911722 | Liver | HCC | nucleotide metabolic process | 300/7958 | 489/18723 | 1.61e-17 | 1.71e-15 | 300 |
GO:000675322 | Liver | HCC | nucleoside phosphate metabolic process | 304/7958 | 497/18723 | 1.78e-17 | 1.85e-15 | 304 |
GO:001969322 | Liver | HCC | ribose phosphate metabolic process | 248/7958 | 396/18723 | 3.15e-16 | 2.70e-14 | 248 |
GO:000925922 | Liver | HCC | ribonucleotide metabolic process | 240/7958 | 385/18723 | 2.07e-15 | 1.51e-13 | 240 |
GO:001605321 | Liver | HCC | organic acid biosynthetic process | 200/7958 | 316/18723 | 5.24e-14 | 3.22e-12 | 200 |
GO:000679021 | Liver | HCC | sulfur compound metabolic process | 212/7958 | 339/18723 | 5.60e-14 | 3.39e-12 | 212 |
GO:000663122 | Liver | HCC | fatty acid metabolic process | 238/7958 | 390/18723 | 8.24e-14 | 4.84e-12 | 238 |
GO:004639421 | Liver | HCC | carboxylic acid biosynthetic process | 198/7958 | 314/18723 | 1.19e-13 | 6.78e-12 | 198 |
GO:000915022 | Liver | HCC | purine ribonucleotide metabolic process | 226/7958 | 368/18723 | 1.36e-13 | 7.69e-12 | 226 |
GO:007252122 | Liver | HCC | purine-containing compound metabolic process | 250/7958 | 416/18723 | 2.26e-13 | 1.24e-11 | 250 |
GO:000616322 | Liver | HCC | purine nucleotide metabolic process | 236/7958 | 396/18723 | 3.59e-12 | 1.62e-10 | 236 |
GO:00338652 | Liver | HCC | nucleoside bisphosphate metabolic process | 88/7958 | 128/18723 | 1.63e-09 | 4.78e-08 | 88 |
GO:00338752 | Liver | HCC | ribonucleoside bisphosphate metabolic process | 88/7958 | 128/18723 | 1.63e-09 | 4.78e-08 | 88 |
GO:00340322 | Liver | HCC | purine nucleoside bisphosphate metabolic process | 88/7958 | 128/18723 | 1.63e-09 | 4.78e-08 | 88 |
GO:00082022 | Liver | HCC | steroid metabolic process | 188/7958 | 319/18723 | 1.96e-09 | 5.63e-08 | 188 |
GO:00066372 | Liver | HCC | acyl-CoA metabolic process | 67/7958 | 96/18723 | 5.62e-08 | 1.19e-06 | 67 |
GO:00353832 | Liver | HCC | thioester metabolic process | 67/7958 | 96/18723 | 5.62e-08 | 1.19e-06 | 67 |
GO:000916512 | Liver | HCC | nucleotide biosynthetic process | 150/7958 | 254/18723 | 6.79e-08 | 1.40e-06 | 150 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa00062 | Colorectum | SER | Fatty acid elongation | 11/1580 | 27/8465 | 6.38e-03 | 3.68e-02 | 2.67e-02 | 11 |
hsa000621 | Colorectum | SER | Fatty acid elongation | 11/1580 | 27/8465 | 6.38e-03 | 3.68e-02 | 2.67e-02 | 11 |
hsa01212 | Colorectum | CRC | Fatty acid metabolism | 14/1091 | 57/8465 | 1.17e-02 | 4.99e-02 | 3.38e-02 | 14 |
hsa012121 | Colorectum | CRC | Fatty acid metabolism | 14/1091 | 57/8465 | 1.17e-02 | 4.99e-02 | 3.38e-02 | 14 |
hsa012129 | Esophagus | ESCC | Fatty acid metabolism | 41/4205 | 57/8465 | 5.13e-04 | 1.75e-03 | 8.98e-04 | 41 |
hsa0121214 | Esophagus | ESCC | Fatty acid metabolism | 41/4205 | 57/8465 | 5.13e-04 | 1.75e-03 | 8.98e-04 | 41 |
hsa012126 | Liver | NAFLD | Fatty acid metabolism | 17/1043 | 57/8465 | 3.43e-04 | 5.93e-03 | 4.78e-03 | 17 |
hsa0121211 | Liver | NAFLD | Fatty acid metabolism | 17/1043 | 57/8465 | 3.43e-04 | 5.93e-03 | 4.78e-03 | 17 |
hsa012122 | Liver | Cirrhotic | Fatty acid metabolism | 32/2530 | 57/8465 | 3.12e-05 | 2.47e-04 | 1.52e-04 | 32 |
hsa01040 | Liver | Cirrhotic | Biosynthesis of unsaturated fatty acids | 14/2530 | 27/8465 | 1.36e-02 | 4.25e-02 | 2.62e-02 | 14 |
hsa012123 | Liver | Cirrhotic | Fatty acid metabolism | 32/2530 | 57/8465 | 3.12e-05 | 2.47e-04 | 1.52e-04 | 32 |
hsa010401 | Liver | Cirrhotic | Biosynthesis of unsaturated fatty acids | 14/2530 | 27/8465 | 1.36e-02 | 4.25e-02 | 2.62e-02 | 14 |
hsa012124 | Liver | HCC | Fatty acid metabolism | 45/4020 | 57/8465 | 1.05e-06 | 1.10e-05 | 6.09e-06 | 45 |
hsa000622 | Liver | HCC | Fatty acid elongation | 20/4020 | 27/8465 | 4.58e-03 | 1.36e-02 | 7.55e-03 | 20 |
hsa010402 | Liver | HCC | Biosynthesis of unsaturated fatty acids | 19/4020 | 27/8465 | 1.37e-02 | 3.33e-02 | 1.85e-02 | 19 |
hsa012125 | Liver | HCC | Fatty acid metabolism | 45/4020 | 57/8465 | 1.05e-06 | 1.10e-05 | 6.09e-06 | 45 |
hsa0006211 | Liver | HCC | Fatty acid elongation | 20/4020 | 27/8465 | 4.58e-03 | 1.36e-02 | 7.55e-03 | 20 |
hsa010403 | Liver | HCC | Biosynthesis of unsaturated fatty acids | 19/4020 | 27/8465 | 1.37e-02 | 3.33e-02 | 1.85e-02 | 19 |
hsa012128 | Oral cavity | OSCC | Fatty acid metabolism | 35/3704 | 57/8465 | 5.37e-03 | 1.29e-02 | 6.55e-03 | 35 |
hsa0121213 | Oral cavity | OSCC | Fatty acid metabolism | 35/3704 | 57/8465 | 5.37e-03 | 1.29e-02 | 6.55e-03 | 35 |
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Cell-cell communication analysis |
Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
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 |
Annotation of somatic variants for genes involved in malignant transformation |
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 |
HSD17B12 | insertion | In_Frame_Ins | novel | c.127_128insGAAGACAAATTAAAAGATATAGTCTCCTTC | p.Ala43delinsGlyArgGlnIleLysArgTyrSerLeuLeuPro | p.A43delinsGRQIKRYSLLP | Q53GQ0 | protein_coding | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
HSD17B12 | SNV | Missense_Mutation | novel | c.271T>G | p.Ser91Ala | p.S91A | Q53GQ0 | protein_coding | tolerated(1) | benign(0.005) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
HSD17B12 | SNV | Missense_Mutation | novel | c.505A>G | p.Thr169Ala | p.T169A | Q53GQ0 | protein_coding | deleterious(0) | possibly_damaging(0.534) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HSD17B12 | SNV | Missense_Mutation | rs764576855 | c.22N>A | p.Ala8Thr | p.A8T | Q53GQ0 | protein_coding | tolerated(0.16) | benign(0.009) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
HSD17B12 | SNV | Missense_Mutation | rs768344325 | c.901N>G | p.Thr301Ala | p.T301A | Q53GQ0 | protein_coding | tolerated(0.46) | benign(0) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HSD17B12 | SNV | Missense_Mutation | novel | c.646N>T | p.Leu216Phe | p.L216F | Q53GQ0 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HSD17B12 | SNV | Missense_Mutation | novel | c.614N>G | p.Thr205Ser | p.T205S | Q53GQ0 | protein_coding | tolerated(0.52) | benign(0.186) | TCGA-A5-A2K3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
HSD17B12 | SNV | Missense_Mutation | rs764792567 | c.755N>T | p.Pro252Leu | p.P252L | Q53GQ0 | protein_coding | deleterious(0) | possibly_damaging(0.855) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HSD17B12 | SNV | Missense_Mutation | rs764792567 | c.755N>T | p.Pro252Leu | p.P252L | Q53GQ0 | protein_coding | deleterious(0) | possibly_damaging(0.855) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
HSD17B12 | SNV | Missense_Mutation | novel | c.475N>C | p.Asn159His | p.N159H | Q53GQ0 | protein_coding | deleterious(0.03) | benign(0.114) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
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Related drugs of malignant transformation related genes |
Identification of chemicals and drugs interact with genes involved in malignant transfromation |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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