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Gene: MCL1 |
Gene summary for MCL1 |
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Gene information | Species | Human | Gene symbol | MCL1 | Gene ID | 4170 |
Gene name | MCL1 apoptosis regulator, BCL2 family member | |
Gene Alias | BCL2L3 | |
Cytomap | 1q21.2 | |
Gene Type | protein-coding | GO ID | GO:0001709 | UniProtAcc | A0A087WT64 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4170 | MCL1 | GSM4909286 | Human | Breast | IDC | 6.39e-05 | -2.39e-01 | 0.1081 |
4170 | MCL1 | GSM4909293 | Human | Breast | IDC | 5.77e-09 | 3.84e-01 | 0.1581 |
4170 | MCL1 | GSM4909294 | Human | Breast | IDC | 2.74e-05 | -4.17e-01 | 0.2022 |
4170 | MCL1 | GSM4909296 | Human | Breast | IDC | 8.41e-08 | -2.10e-01 | 0.1524 |
4170 | MCL1 | GSM4909297 | Human | Breast | IDC | 6.26e-09 | -1.87e-01 | 0.1517 |
4170 | MCL1 | GSM4909299 | Human | Breast | IDC | 2.79e-07 | 4.20e-01 | 0.035 |
4170 | MCL1 | GSM4909301 | Human | Breast | IDC | 8.48e-88 | 1.06e+00 | 0.1577 |
4170 | MCL1 | GSM4909308 | Human | Breast | IDC | 9.89e-03 | 2.93e-01 | 0.158 |
4170 | MCL1 | GSM4909311 | Human | Breast | IDC | 8.66e-27 | -3.07e-01 | 0.1534 |
4170 | MCL1 | GSM4909312 | Human | Breast | IDC | 8.38e-04 | 8.22e-02 | 0.1552 |
4170 | MCL1 | GSM4909319 | Human | Breast | IDC | 1.12e-35 | -6.05e-01 | 0.1563 |
4170 | MCL1 | GSM4909320 | Human | Breast | IDC | 2.46e-06 | -5.35e-01 | 0.1575 |
4170 | MCL1 | GSM4909321 | Human | Breast | IDC | 4.44e-08 | 2.00e-02 | 0.1559 |
4170 | MCL1 | brca2 | Human | Breast | Precancer | 6.51e-03 | -8.41e-02 | -0.024 |
4170 | MCL1 | brca3 | Human | Breast | Precancer | 2.99e-04 | -1.06e-02 | -0.0263 |
4170 | MCL1 | brca10 | Human | Breast | Precancer | 9.33e-04 | -3.85e-01 | -0.0029 |
4170 | MCL1 | NCCBC14 | Human | Breast | DCIS | 8.16e-07 | -3.13e-01 | 0.2021 |
4170 | MCL1 | NCCBC5 | Human | Breast | DCIS | 5.78e-08 | -3.78e-01 | 0.2046 |
4170 | MCL1 | P1 | Human | Breast | IDC | 1.48e-12 | -1.66e-01 | 0.1527 |
4170 | MCL1 | DCIS2 | Human | Breast | DCIS | 1.88e-46 | 4.59e-01 | 0.0085 |
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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:190121613 | Lung | AIS | positive regulation of neuron death | 20/1849 | 97/18723 | 1.12e-03 | 1.44e-02 | 20 |
GO:000863012 | Lung | AIS | intrinsic apoptotic signaling pathway in response to DNA damage | 20/1849 | 99/18723 | 1.46e-03 | 1.77e-02 | 20 |
GO:200123513 | Lung | AIS | positive regulation of apoptotic signaling pathway | 22/1849 | 126/18723 | 5.81e-03 | 4.83e-02 | 22 |
GO:200123320 | Oral cavity | OSCC | regulation of apoptotic signaling pathway | 242/7305 | 356/18723 | 6.66e-29 | 3.24e-26 | 242 |
GO:009719320 | Oral cavity | OSCC | intrinsic apoptotic signaling pathway | 202/7305 | 288/18723 | 4.64e-27 | 1.73e-24 | 202 |
GO:000697920 | Oral cavity | OSCC | response to oxidative stress | 273/7305 | 446/18723 | 8.35e-22 | 1.65e-19 | 273 |
GO:200124220 | Oral cavity | OSCC | regulation of intrinsic apoptotic signaling pathway | 123/7305 | 164/18723 | 5.71e-21 | 9.77e-19 | 123 |
GO:001050610 | Oral cavity | OSCC | regulation of autophagy | 198/7305 | 317/18723 | 1.63e-17 | 1.51e-15 | 198 |
GO:200123420 | Oral cavity | OSCC | negative regulation of apoptotic signaling pathway | 148/7305 | 224/18723 | 1.71e-16 | 1.36e-14 | 148 |
GO:006219720 | Oral cavity | OSCC | cellular response to chemical stress | 204/7305 | 337/18723 | 6.89e-16 | 5.19e-14 | 204 |
GO:009719120 | Oral cavity | OSCC | extrinsic apoptotic signaling pathway | 142/7305 | 219/18723 | 7.34e-15 | 4.55e-13 | 142 |
GO:200123510 | Oral cavity | OSCC | positive regulation of apoptotic signaling pathway | 92/7305 | 126/18723 | 8.45e-15 | 5.19e-13 | 92 |
GO:003459920 | Oral cavity | OSCC | cellular response to oxidative stress | 173/7305 | 288/18723 | 2.90e-13 | 1.43e-11 | 173 |
GO:200124320 | Oral cavity | OSCC | negative regulation of intrinsic apoptotic signaling pathway | 73/7305 | 98/18723 | 9.33e-13 | 4.22e-11 | 73 |
GO:000863018 | Oral cavity | OSCC | intrinsic apoptotic signaling pathway in response to DNA damage | 72/7305 | 99/18723 | 9.50e-12 | 3.50e-10 | 72 |
GO:200123620 | Oral cavity | OSCC | regulation of extrinsic apoptotic signaling pathway | 100/7305 | 151/18723 | 1.07e-11 | 3.90e-10 | 100 |
GO:007099720 | Oral cavity | OSCC | neuron death | 202/7305 | 361/18723 | 3.75e-11 | 1.23e-09 | 202 |
GO:000989519 | Oral cavity | OSCC | negative regulation of catabolic process | 180/7305 | 320/18723 | 2.44e-10 | 6.86e-09 | 180 |
GO:003133020 | Oral cavity | OSCC | negative regulation of cellular catabolic process | 152/7305 | 262/18723 | 3.04e-10 | 8.28e-09 | 152 |
GO:200102017 | Oral cavity | OSCC | regulation of response to DNA damage stimulus | 131/7305 | 219/18723 | 3.21e-10 | 8.72e-09 | 131 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa042108 | Breast | Precancer | Apoptosis | 25/684 | 136/8465 | 7.61e-05 | 6.87e-04 | 5.26e-04 | 25 |
hsa0421013 | Breast | Precancer | Apoptosis | 25/684 | 136/8465 | 7.61e-05 | 6.87e-04 | 5.26e-04 | 25 |
hsa0421022 | Breast | IDC | Apoptosis | 31/867 | 136/8465 | 1.34e-05 | 1.61e-04 | 1.20e-04 | 31 |
hsa0421032 | Breast | IDC | Apoptosis | 31/867 | 136/8465 | 1.34e-05 | 1.61e-04 | 1.20e-04 | 31 |
hsa0421041 | Breast | DCIS | Apoptosis | 29/846 | 136/8465 | 5.92e-05 | 5.97e-04 | 4.40e-04 | 29 |
hsa0421051 | Breast | DCIS | Apoptosis | 29/846 | 136/8465 | 5.92e-05 | 5.97e-04 | 4.40e-04 | 29 |
hsa04210 | Colorectum | MSS | Apoptosis | 44/1875 | 136/8465 | 3.66e-03 | 1.66e-02 | 1.01e-02 | 44 |
hsa042101 | Colorectum | MSS | Apoptosis | 44/1875 | 136/8465 | 3.66e-03 | 1.66e-02 | 1.01e-02 | 44 |
hsa0421024 | Endometrium | EEC | Apoptosis | 31/1237 | 136/8465 | 6.72e-03 | 3.25e-02 | 2.42e-02 | 31 |
hsa0421034 | Endometrium | EEC | Apoptosis | 31/1237 | 136/8465 | 6.72e-03 | 3.25e-02 | 2.42e-02 | 31 |
hsa0421020 | Esophagus | HGIN | Apoptosis | 36/1383 | 136/8465 | 1.67e-03 | 1.52e-02 | 1.20e-02 | 36 |
hsa04210110 | Esophagus | HGIN | Apoptosis | 36/1383 | 136/8465 | 1.67e-03 | 1.52e-02 | 1.20e-02 | 36 |
hsa0421027 | Esophagus | ESCC | Apoptosis | 102/4205 | 136/8465 | 1.05e-09 | 1.21e-08 | 6.21e-09 | 102 |
hsa041517 | Esophagus | ESCC | PI3K-Akt signaling pathway | 197/4205 | 354/8465 | 1.24e-02 | 2.83e-02 | 1.45e-02 | 197 |
hsa0421037 | Esophagus | ESCC | Apoptosis | 102/4205 | 136/8465 | 1.05e-09 | 1.21e-08 | 6.21e-09 | 102 |
hsa0415114 | Esophagus | ESCC | PI3K-Akt signaling pathway | 197/4205 | 354/8465 | 1.24e-02 | 2.83e-02 | 1.45e-02 | 197 |
hsa042106 | Liver | Cirrhotic | Apoptosis | 58/2530 | 136/8465 | 9.84e-04 | 5.55e-03 | 3.42e-03 | 58 |
hsa0421011 | Liver | Cirrhotic | Apoptosis | 58/2530 | 136/8465 | 9.84e-04 | 5.55e-03 | 3.42e-03 | 58 |
hsa042102 | Liver | HCC | Apoptosis | 83/4020 | 136/8465 | 9.51e-04 | 3.58e-03 | 1.99e-03 | 83 |
hsa042103 | Liver | HCC | Apoptosis | 83/4020 | 136/8465 | 9.51e-04 | 3.58e-03 | 1.99e-03 | 83 |
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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 |
MCL1 | SNV | Missense_Mutation | c.724G>A | p.Asp242Asn | p.D242N | Q07820 | protein_coding | tolerated(0.11) | benign(0.268) | TCGA-D8-A1JN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozolum | SD | |
MCL1 | insertion | In_Frame_Ins | novel | c.734_735insCAAACTGTTGGT | p.Ser245_Leu246insLysLeuLeuVal | p.S245_L246insKLLV | Q07820 | protein_coding | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR | ||
MCL1 | insertion | Frame_Shift_Ins | novel | c.732_733insGCTTCTCTTC | p.Ser245AlafsTer35 | p.S245Afs*35 | Q07820 | protein_coding | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR | ||
MCL1 | SNV | Missense_Mutation | c.485N>G | p.Ser162Trp | p.S162W | Q07820 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
MCL1 | SNV | Missense_Mutation | novel | c.823G>A | p.Ala275Thr | p.A275T | Q07820 | protein_coding | deleterious(0.02) | possibly_damaging(0.546) | TCGA-AA-3976-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folinic | CR |
MCL1 | SNV | Missense_Mutation | novel | c.543T>G | p.Ile181Met | p.I181M | Q07820 | protein_coding | tolerated(0.1) | benign(0.231) | TCGA-AA-3976-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folinic | CR |
MCL1 | SNV | Missense_Mutation | novel | c.74G>A | p.Ser25Asn | p.S25N | Q07820 | protein_coding | tolerated_low_confidence(0.12) | benign(0.023) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MCL1 | SNV | Missense_Mutation | novel | c.844N>C | p.Asn282His | p.N282H | Q07820 | protein_coding | deleterious(0.04) | probably_damaging(0.956) | TCGA-AG-A00Y-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
MCL1 | SNV | Missense_Mutation | novel | c.361T>A | p.Ser121Thr | p.S121T | Q07820 | protein_coding | tolerated(0.07) | benign(0.202) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
MCL1 | SNV | Missense_Mutation | novel | c.679N>A | p.Ala227Thr | p.A227T | Q07820 | protein_coding | deleterious(0.04) | possibly_damaging(0.628) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | 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 |
4170 | MCL1 | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PMID27744724-Compound-13 | |||
4170 | MCL1 | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PROCHLORPERAZINE | PROCHLORPERAZINE | ||
4170 | MCL1 | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | SULFURETIN | SULFURETIN | ||
4170 | MCL1 | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PMID27744724-Compound-22 | |||
4170 | MCL1 | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | APOMORPHINE HYDROCHLORIDE HEMIHYDRATE | APOMORPHINE HYDROCHLORIDE HEMIHYDRATE | ||
4170 | MCL1 | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | CB7969312 | CHEMBL599255 | ||
4170 | MCL1 | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | SJ000036432 | CHEMBL591135 | ||
4170 | MCL1 | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | AMENTOFLAVONE | AMENTOFLAVONE | ||
4170 | MCL1 | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | antagonist | 252166530 | VENETOCLAX | |
4170 | MCL1 | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | LOMOFUNGIN | LOMOFUNGIN |
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