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Gene: CAPN1 |
Gene summary for CAPN1 |
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Gene information | Species | Human | Gene symbol | CAPN1 | Gene ID | 823 |
Gene name | calpain 1 | |
Gene Alias | CANP | |
Cytomap | 11q13.1 | |
Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | B2RDI5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
823 | CAPN1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.62e-09 | 3.16e-01 | 0.0155 |
823 | CAPN1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 2.77e-21 | 1.02e+00 | -0.1808 |
823 | CAPN1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.15e-17 | 8.70e-01 | -0.0811 |
823 | CAPN1 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.68e-04 | 4.49e-01 | -0.1088 |
823 | CAPN1 | HTA11_347_2000001011 | Human | Colorectum | AD | 3.69e-35 | 8.24e-01 | -0.1954 |
823 | CAPN1 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.70e-04 | 1.12e+00 | -0.2602 |
823 | CAPN1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.78e-09 | 1.01e+00 | -0.2196 |
823 | CAPN1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.04e-11 | 6.78e-01 | -0.1207 |
823 | CAPN1 | HTA11_83_2000001011 | Human | Colorectum | SER | 1.66e-10 | 7.34e-01 | -0.1526 |
823 | CAPN1 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.73e-29 | 8.62e-01 | -0.1464 |
823 | CAPN1 | HTA11_866_2000001011 | Human | Colorectum | AD | 9.73e-18 | 6.35e-01 | -0.1001 |
823 | CAPN1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 5.57e-24 | 1.06e+00 | -0.059 |
823 | CAPN1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.29e-09 | 9.26e-01 | -0.1706 |
823 | CAPN1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 4.63e-08 | 7.63e-01 | -0.2061 |
823 | CAPN1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 1.44e-07 | 8.49e-01 | -0.1462 |
823 | CAPN1 | HTA11_546_2000001011 | Human | Colorectum | AD | 5.61e-08 | 6.67e-01 | -0.0842 |
823 | CAPN1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 3.55e-03 | 3.76e-01 | -0.0179 |
823 | CAPN1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.25e-18 | 7.14e-01 | 0.096 |
823 | CAPN1 | HTA11_4255_2000001011 | Human | Colorectum | SER | 7.07e-05 | 6.05e-01 | 0.0446 |
823 | CAPN1 | HTA11_9408_2000001011 | Human | Colorectum | AD | 8.82e-07 | 8.52e-01 | 0.0451 |
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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:0048732113 | Thyroid | PTC | gland development | 193/5968 | 436/18723 | 2.88e-08 | 6.42e-07 | 193 |
GO:004311219 | Thyroid | PTC | receptor metabolic process | 77/5968 | 166/18723 | 6.21e-05 | 5.47e-04 | 77 |
GO:00328016 | Thyroid | PTC | receptor catabolic process | 17/5968 | 28/18723 | 1.55e-03 | 8.63e-03 | 17 |
GO:002261219 | Thyroid | PTC | gland morphogenesis | 52/5968 | 118/18723 | 3.56e-03 | 1.72e-02 | 52 |
GO:001050623 | Thyroid | goiters | regulation of autophagy | 19/497 | 317/18723 | 8.67e-04 | 1.87e-02 | 19 |
GO:0043112110 | Thyroid | goiters | receptor metabolic process | 12/497 | 166/18723 | 1.63e-03 | 2.99e-02 | 12 |
GO:004873229 | Thyroid | goiters | gland development | 22/497 | 436/18723 | 3.19e-03 | 4.79e-02 | 22 |
GO:001623623 | Thyroid | ATC | macroautophagy | 169/6293 | 291/18723 | 6.56e-18 | 7.69e-16 | 169 |
GO:001050632 | Thyroid | ATC | regulation of autophagy | 180/6293 | 317/18723 | 1.34e-17 | 1.46e-15 | 180 |
GO:001624115 | Thyroid | ATC | regulation of macroautophagy | 86/6293 | 141/18723 | 2.35e-11 | 8.24e-10 | 86 |
GO:004873233 | Thyroid | ATC | gland development | 210/6293 | 436/18723 | 1.50e-10 | 4.59e-09 | 210 |
GO:0022612110 | Thyroid | ATC | gland morphogenesis | 62/6293 | 118/18723 | 1.68e-05 | 1.55e-04 | 62 |
GO:004311224 | Thyroid | ATC | receptor metabolic process | 82/6293 | 166/18723 | 1.78e-05 | 1.63e-04 | 82 |
GO:00487715 | Thyroid | ATC | tissue remodeling | 78/6293 | 175/18723 | 1.60e-03 | 8.04e-03 | 78 |
GO:003087917 | Thyroid | ATC | mammary gland development | 62/6293 | 137/18723 | 2.96e-03 | 1.34e-02 | 62 |
GO:003280114 | Thyroid | ATC | receptor catabolic process | 17/6293 | 28/18723 | 2.97e-03 | 1.35e-02 | 17 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05010 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa05131 | Colorectum | AD | Shigellosis | 109/2092 | 247/8465 | 1.09e-11 | 2.44e-10 | 1.55e-10 | 109 |
hsa04141 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
hsa04218 | Colorectum | AD | Cellular senescence | 53/2092 | 156/8465 | 5.55e-03 | 2.48e-02 | 1.58e-02 | 53 |
hsa050101 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa050221 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa051311 | Colorectum | AD | Shigellosis | 109/2092 | 247/8465 | 1.09e-11 | 2.44e-10 | 1.55e-10 | 109 |
hsa041411 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
hsa042181 | Colorectum | AD | Cellular senescence | 53/2092 | 156/8465 | 5.55e-03 | 2.48e-02 | 1.58e-02 | 53 |
hsa050102 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050222 | Colorectum | SER | Pathways of neurodegeneration - multiple diseases | 168/1580 | 476/8465 | 6.23e-19 | 2.07e-17 | 1.50e-17 | 168 |
hsa051312 | Colorectum | SER | Shigellosis | 87/1580 | 247/8465 | 3.07e-10 | 7.27e-09 | 5.28e-09 | 87 |
hsa041412 | Colorectum | SER | Protein processing in endoplasmic reticulum | 60/1580 | 174/8465 | 4.20e-07 | 7.33e-06 | 5.32e-06 | 60 |
hsa04217 | Colorectum | SER | Necroptosis | 47/1580 | 159/8465 | 5.21e-04 | 4.44e-03 | 3.22e-03 | 47 |
hsa050103 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050223 | Colorectum | SER | Pathways of neurodegeneration - multiple diseases | 168/1580 | 476/8465 | 6.23e-19 | 2.07e-17 | 1.50e-17 | 168 |
hsa051313 | Colorectum | SER | Shigellosis | 87/1580 | 247/8465 | 3.07e-10 | 7.27e-09 | 5.28e-09 | 87 |
hsa041413 | Colorectum | SER | Protein processing in endoplasmic reticulum | 60/1580 | 174/8465 | 4.20e-07 | 7.33e-06 | 5.32e-06 | 60 |
hsa042171 | Colorectum | SER | Necroptosis | 47/1580 | 159/8465 | 5.21e-04 | 4.44e-03 | 3.22e-03 | 47 |
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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 |
CAPN1 | SNV | Missense_Mutation | c.491N>C | p.Val164Ala | p.V164A | P07384 | protein_coding | deleterious(0) | benign(0.435) | TCGA-AN-A0XP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
CAPN1 | SNV | Missense_Mutation | novel | c.1444G>A | p.Glu482Lys | p.E482K | P07384 | protein_coding | deleterious(0) | possibly_damaging(0.901) | TCGA-BH-A5J0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CAPN1 | SNV | Missense_Mutation | rs762252249 | c.1417N>T | p.Arg473Cys | p.R473C | P07384 | protein_coding | deleterious(0.05) | probably_damaging(0.985) | TCGA-C8-A135-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
CAPN1 | SNV | Missense_Mutation | c.2079N>A | p.Asp693Glu | p.D693E | P07384 | protein_coding | deleterious(0.03) | benign(0.062) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
CAPN1 | SNV | Missense_Mutation | c.1304N>A | p.Gly435Asp | p.G435D | P07384 | protein_coding | deleterious(0.01) | probably_damaging(0.971) | TCGA-E2-A14W-01 | Breast | breast invasive carcinoma | Male | >=65 | I/II | Chemotherapy | cytoxan | SD | |
CAPN1 | SNV | Missense_Mutation | c.595N>C | p.Asn199His | p.N199H | P07384 | protein_coding | tolerated(0.17) | possibly_damaging(0.522) | TCGA-E2-A1LS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cyclophosphamide | SD | |
CAPN1 | SNV | Missense_Mutation | c.824N>G | p.Ser275Cys | p.S275C | P07384 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
CAPN1 | SNV | Missense_Mutation | c.1461N>A | p.Phe487Leu | p.F487L | P07384 | protein_coding | tolerated(0.32) | benign(0.003) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
CAPN1 | SNV | Missense_Mutation | novel | c.1576N>A | p.Asp526Asn | p.D526N | P07384 | protein_coding | tolerated(0.23) | benign(0.219) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CAPN1 | SNV | Missense_Mutation | c.127N>C | p.Glu43Gln | p.E43Q | P07384 | protein_coding | tolerated(0.06) | benign(0.013) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
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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 |
823 | CAPN1 | PROTEASE, DRUGGABLE GENOME, ENZYME | Undecylenic acid derivative 1 | |||
823 | CAPN1 | PROTEASE, DRUGGABLE GENOME, ENZYME | BORTEZOMIB | BORTEZOMIB | 20875739 |
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