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Gene: BMPR1B |
Gene summary for BMPR1B |
Gene summary. |
Gene information | Species | Human | Gene symbol | BMPR1B | Gene ID | 658 |
Gene name | bone morphogenetic protein receptor type 1B | |
Gene Alias | ALK-6 | |
Cytomap | 4q22.3 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | O00238 |
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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 |
658 | BMPR1B | GSM4909286 | Human | Breast | IDC | 1.78e-08 | 1.70e-01 | 0.1081 |
658 | BMPR1B | GSM4909291 | Human | Breast | IDC | 4.69e-16 | 4.07e-01 | 0.1753 |
658 | BMPR1B | GSM4909301 | Human | Breast | IDC | 6.38e-36 | 7.33e-01 | 0.1577 |
658 | BMPR1B | GSM4909302 | Human | Breast | IDC | 1.58e-10 | 2.75e-01 | 0.1545 |
658 | BMPR1B | GSM4909303 | Human | Breast | IDC | 1.12e-03 | 2.34e-01 | 0.0438 |
658 | BMPR1B | GSM4909304 | Human | Breast | IDC | 3.01e-32 | 4.97e-01 | 0.1636 |
658 | BMPR1B | GSM4909307 | Human | Breast | IDC | 1.13e-55 | 8.88e-01 | 0.1569 |
658 | BMPR1B | GSM4909308 | Human | Breast | IDC | 2.11e-96 | 1.18e+00 | 0.158 |
658 | BMPR1B | GSM4909312 | Human | Breast | IDC | 8.25e-07 | 2.95e-01 | 0.1552 |
658 | BMPR1B | GSM4909313 | Human | Breast | IDC | 1.83e-24 | 7.77e-01 | 0.0391 |
658 | BMPR1B | GSM4909319 | Human | Breast | IDC | 3.04e-13 | 5.47e-01 | 0.1563 |
658 | BMPR1B | GSM4909321 | Human | Breast | IDC | 8.04e-10 | 3.33e-01 | 0.1559 |
658 | BMPR1B | M1 | Human | Breast | IDC | 6.78e-45 | 8.66e-01 | 0.1577 |
658 | BMPR1B | M5 | Human | Breast | IDC | 4.29e-35 | 1.39e+00 | 0.1598 |
658 | BMPR1B | NCCBC2 | Human | Breast | DCIS | 5.88e-04 | 4.92e-01 | 0.1554 |
658 | BMPR1B | P1 | Human | Breast | IDC | 4.94e-07 | 3.73e-01 | 0.1527 |
658 | BMPR1B | P3 | Human | Breast | IDC | 1.25e-20 | 9.68e-01 | 0.1542 |
658 | BMPR1B | H2 | Human | Cervix | HSIL_HPV | 1.27e-06 | 3.09e-01 | 0.0632 |
658 | BMPR1B | T2 | Human | Cervix | CC | 3.80e-04 | 4.36e-01 | 0.0709 |
658 | BMPR1B | AEH-subject1 | Human | Endometrium | AEH | 1.51e-75 | 1.17e+00 | -0.3059 |
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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:00336748 | Lung | IAC | positive regulation of kinase activity | 83/2061 | 467/18723 | 6.76e-06 | 2.45e-04 | 83 |
GO:1902043 | Lung | IAC | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 8/2061 | 13/18723 | 1.64e-05 | 4.73e-04 | 8 |
GO:00615646 | Lung | IAC | axon development | 78/2061 | 467/18723 | 1.12e-04 | 2.15e-03 | 78 |
GO:00074096 | Lung | IAC | axonogenesis | 71/2061 | 418/18723 | 1.33e-04 | 2.48e-03 | 71 |
GO:20012384 | Lung | IAC | positive regulation of extrinsic apoptotic signaling pathway | 14/2061 | 48/18723 | 4.72e-04 | 6.92e-03 | 14 |
GO:00071785 | Lung | IAC | transmembrane receptor protein serine/threonine kinase signaling pathway | 60/2061 | 355/18723 | 4.82e-04 | 7.03e-03 | 60 |
GO:20012355 | Lung | IAC | positive regulation of apoptotic signaling pathway | 27/2061 | 126/18723 | 5.01e-04 | 7.25e-03 | 27 |
GO:19020417 | Lung | IAC | regulation of extrinsic apoptotic signaling pathway via death domain receptors | 13/2061 | 49/18723 | 1.95e-03 | 1.97e-02 | 13 |
GO:0031290 | Lung | IAC | retinal ganglion cell axon guidance | 7/2061 | 19/18723 | 2.95e-03 | 2.61e-02 | 7 |
GO:00086257 | Lung | IAC | extrinsic apoptotic signaling pathway via death domain receptors | 17/2061 | 82/18723 | 7.26e-03 | 4.95e-02 | 17 |
GO:200123318 | Prostate | BPH | regulation of apoptotic signaling pathway | 134/3107 | 356/18723 | 5.06e-22 | 7.84e-19 | 134 |
GO:006145810 | Prostate | BPH | reproductive system development | 126/3107 | 427/18723 | 1.35e-11 | 9.95e-10 | 126 |
GO:009719118 | Prostate | BPH | extrinsic apoptotic signaling pathway | 77/3107 | 219/18723 | 1.67e-11 | 1.19e-09 | 77 |
GO:004851110 | Prostate | BPH | rhythmic process | 96/3107 | 298/18723 | 1.88e-11 | 1.31e-09 | 96 |
GO:200123618 | Prostate | BPH | regulation of extrinsic apoptotic signaling pathway | 59/3107 | 151/18723 | 3.07e-11 | 2.02e-09 | 59 |
GO:004860810 | Prostate | BPH | reproductive structure development | 124/3107 | 424/18723 | 3.76e-11 | 2.43e-09 | 124 |
GO:20012359 | Prostate | BPH | positive regulation of apoptotic signaling pathway | 50/3107 | 126/18723 | 5.08e-10 | 2.56e-08 | 50 |
GO:00016499 | Prostate | BPH | osteoblast differentiation | 75/3107 | 229/18723 | 1.29e-09 | 5.57e-08 | 75 |
GO:19020435 | Prostate | BPH | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 12/3107 | 13/18723 | 4.72e-09 | 1.75e-07 | 12 |
GO:003367416 | Prostate | BPH | positive regulation of kinase activity | 122/3107 | 467/18723 | 8.59e-08 | 2.14e-06 | 122 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0541824 | Breast | IDC | Fluid shear stress and atherosclerosis | 34/867 | 139/8465 | 9.41e-07 | 1.61e-05 | 1.20e-05 | 34 |
hsa0541834 | Breast | IDC | Fluid shear stress and atherosclerosis | 34/867 | 139/8465 | 9.41e-07 | 1.61e-05 | 1.20e-05 | 34 |
hsa0541844 | Breast | DCIS | Fluid shear stress and atherosclerosis | 34/846 | 139/8465 | 5.31e-07 | 9.03e-06 | 6.65e-06 | 34 |
hsa0541854 | Breast | DCIS | Fluid shear stress and atherosclerosis | 34/846 | 139/8465 | 5.31e-07 | 9.03e-06 | 6.65e-06 | 34 |
hsa0541825 | Cervix | HSIL_HPV | Fluid shear stress and atherosclerosis | 16/459 | 139/8465 | 3.41e-03 | 2.08e-02 | 1.68e-02 | 16 |
hsa0541835 | Cervix | HSIL_HPV | Fluid shear stress and atherosclerosis | 16/459 | 139/8465 | 3.41e-03 | 2.08e-02 | 1.68e-02 | 16 |
hsa0541826 | Endometrium | AEH | Fluid shear stress and atherosclerosis | 43/1197 | 139/8465 | 2.47e-07 | 3.49e-06 | 2.55e-06 | 43 |
hsa043909 | Endometrium | AEH | Hippo signaling pathway | 38/1197 | 157/8465 | 4.79e-04 | 3.38e-03 | 2.47e-03 | 38 |
hsa043504 | Endometrium | AEH | TGF-beta signaling pathway | 26/1197 | 108/8465 | 3.82e-03 | 2.18e-02 | 1.59e-02 | 26 |
hsa0436010 | Endometrium | AEH | Axon guidance | 39/1197 | 182/8465 | 4.47e-03 | 2.46e-02 | 1.80e-02 | 39 |
hsa05418112 | Endometrium | AEH | Fluid shear stress and atherosclerosis | 43/1197 | 139/8465 | 2.47e-07 | 3.49e-06 | 2.55e-06 | 43 |
hsa0439014 | Endometrium | AEH | Hippo signaling pathway | 38/1197 | 157/8465 | 4.79e-04 | 3.38e-03 | 2.47e-03 | 38 |
hsa0435011 | Endometrium | AEH | TGF-beta signaling pathway | 26/1197 | 108/8465 | 3.82e-03 | 2.18e-02 | 1.59e-02 | 26 |
hsa0436013 | Endometrium | AEH | Axon guidance | 39/1197 | 182/8465 | 4.47e-03 | 2.46e-02 | 1.80e-02 | 39 |
hsa0541827 | Endometrium | EEC | Fluid shear stress and atherosclerosis | 45/1237 | 139/8465 | 7.76e-08 | 1.22e-06 | 9.07e-07 | 45 |
hsa0439023 | Endometrium | EEC | Hippo signaling pathway | 39/1237 | 157/8465 | 4.54e-04 | 3.47e-03 | 2.59e-03 | 39 |
hsa043502 | Endometrium | EEC | TGF-beta signaling pathway | 26/1237 | 108/8465 | 5.95e-03 | 3.12e-02 | 2.33e-02 | 26 |
hsa0436022 | Endometrium | EEC | Axon guidance | 39/1237 | 182/8465 | 7.78e-03 | 3.66e-02 | 2.73e-02 | 39 |
hsa0541836 | Endometrium | EEC | Fluid shear stress and atherosclerosis | 45/1237 | 139/8465 | 7.76e-08 | 1.22e-06 | 9.07e-07 | 45 |
hsa0439033 | Endometrium | EEC | Hippo signaling pathway | 39/1237 | 157/8465 | 4.54e-04 | 3.47e-03 | 2.59e-03 | 39 |
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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 |
BMP7 | BMPR1B_ACVR2A | BMP7_BMPR1B_ACVR2A | BMP | Cervix | CC |
BMP7 | BMPR1B_BMPR2 | BMP7_BMPR1B_BMPR2 | BMP | Cervix | CC |
GDF7 | BMPR1B_BMPR2 | GDF7_BMPR1B_BMPR2 | BMP | Endometrium | ADJ |
BMP8A | BMPR1B_BMPR2 | BMP8A_BMPR1B_BMPR2 | BMP | Endometrium | ADJ |
BMP2 | BMPR1B_BMPR2 | BMP2_BMPR1B_BMPR2 | BMP | Endometrium | AEH |
BMP7 | BMPR1B_BMPR2 | BMP7_BMPR1B_BMPR2 | BMP | Endometrium | AEH |
GDF7 | BMPR1B_ACVR2B | GDF7_BMPR1B_ACVR2B | BMP | Endometrium | Healthy |
BMP5 | BMPR1B_ACVR2A | BMP5_BMPR1B_ACVR2A | BMP | Liver | Healthy |
BMP5 | BMPR1B_ACVR2B | BMP5_BMPR1B_ACVR2B | BMP | Liver | Healthy |
BMP5 | BMPR1B_BMPR2 | BMP5_BMPR1B_BMPR2 | BMP | Liver | Healthy |
BMP6 | BMPR1B_ACVR2A | BMP6_BMPR1B_ACVR2A | BMP | Liver | Healthy |
BMP6 | BMPR1B_ACVR2B | BMP6_BMPR1B_ACVR2B | BMP | Liver | Healthy |
BMP6 | BMPR1B_BMPR2 | BMP6_BMPR1B_BMPR2 | BMP | Liver | Healthy |
BMP4 | BMPR1B_ACVR2A | BMP4_BMPR1B_ACVR2A | BMP | Liver | Precancer |
BMP4 | BMPR1B_BMPR2 | BMP4_BMPR1B_BMPR2 | BMP | Liver | Precancer |
BMP5 | BMPR1B_ACVR2A | BMP5_BMPR1B_ACVR2A | BMP | Liver | Precancer |
BMP5 | BMPR1B_BMPR2 | BMP5_BMPR1B_BMPR2 | BMP | Liver | Precancer |
BMP6 | BMPR1B_ACVR2A | BMP6_BMPR1B_ACVR2A | BMP | Liver | Precancer |
BMP6 | BMPR1B_BMPR2 | BMP6_BMPR1B_BMPR2 | BMP | Liver | Precancer |
BMP2 | BMPR1B_BMPR2 | BMP2_BMPR1B_BMPR2 | BMP | Lung | AAH |
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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 |
BMPR1B | SNV | Missense_Mutation | c.283N>T | p.Pro95Ser | p.P95S | O00238 | protein_coding | tolerated(0.54) | benign(0.297) | TCGA-A2-A0YG-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD | |
BMPR1B | SNV | Missense_Mutation | c.527G>A | p.Cys176Tyr | p.C176Y | O00238 | protein_coding | tolerated(0.14) | benign(0) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
BMPR1B | SNV | Missense_Mutation | c.620N>A | p.Arg207Lys | p.R207K | O00238 | protein_coding | tolerated(1) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
BMPR1B | SNV | Missense_Mutation | novel | c.967N>C | p.Ser323Pro | p.S323P | O00238 | protein_coding | tolerated(0.23) | benign(0.313) | TCGA-E9-A1RC-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | SD |
BMPR1B | SNV | Missense_Mutation | novel | c.1105C>G | p.Leu369Val | p.L369V | O00238 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-OL-A66L-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BMPR1B | insertion | Frame_Shift_Ins | novel | c.689_690dupTA | p.Ala231Ter | p.A231* | O00238 | protein_coding | TCGA-E9-A2JS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | PD | ||
BMPR1B | SNV | Missense_Mutation | novel | c.1554N>T | p.Lys518Asn | p.K518N | O00238 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-MA-AA3Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
BMPR1B | SNV | Missense_Mutation | rs758706811 | c.166N>T | p.Arg56Cys | p.R56C | O00238 | protein_coding | tolerated(0.11) | benign(0.007) | TCGA-AA-3664-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BMPR1B | SNV | Missense_Mutation | c.248G>T | p.Cys83Phe | p.C83F | O00238 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3713-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | PR | |
BMPR1B | SNV | Missense_Mutation | c.1034N>C | p.Leu345Ser | p.L345S | O00238 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3833-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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 |
658 | BMPR1B | DRUGGABLE GENOME, CELL SURFACE, ENZYME, KINASE, SERINE THREONINE KINASE | inhibitor | 249565824 | ||
658 | BMPR1B | DRUGGABLE GENOME, CELL SURFACE, ENZYME, KINASE, SERINE THREONINE KINASE | inhibitor | 223366128 | GALUNISERTIB | |
658 | BMPR1B | DRUGGABLE GENOME, CELL SURFACE, ENZYME, KINASE, SERINE THREONINE KINASE | inhibitor | 249565800 | ||
658 | BMPR1B | DRUGGABLE GENOME, CELL SURFACE, ENZYME, KINASE, SERINE THREONINE KINASE | inhibitor | 249565835 |
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