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Gene: ATP6V1B1 |
Gene summary for ATP6V1B1 |
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Gene information | Species | Human | Gene symbol | ATP6V1B1 | Gene ID | 525 |
Gene name | ATPase H+ transporting V1 subunit B1 | |
Gene Alias | ATP6B1 | |
Cytomap | 2p13.3 | |
Gene Type | protein-coding | GO ID | GO:0001503 | UniProtAcc | P15313 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
525 | ATP6V1B1 | P8T-E | Human | Esophagus | ESCC | 8.31e-11 | 4.20e-01 | 0.0889 |
525 | ATP6V1B1 | P74T-E | Human | Esophagus | ESCC | 4.29e-04 | 3.05e-01 | 0.1479 |
525 | ATP6V1B1 | P75T-E | Human | Esophagus | ESCC | 9.64e-06 | 1.49e-01 | 0.1125 |
525 | ATP6V1B1 | P82T-E | Human | Esophagus | ESCC | 3.05e-09 | 9.67e-01 | 0.1072 |
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Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![]() | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias | ||
LGIN: Low-grade intraepithelial neoplasias |
∗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:001623617 | Esophagus | ESCC | macroautophagy | 216/8552 | 291/18723 | 1.94e-23 | 4.57e-21 | 216 |
GO:001050617 | Esophagus | ESCC | regulation of autophagy | 220/8552 | 317/18723 | 6.72e-18 | 6.36e-16 | 220 |
GO:0046034111 | Esophagus | ESCC | ATP metabolic process | 189/8552 | 277/18723 | 1.99e-14 | 1.04e-12 | 189 |
GO:001624114 | Esophagus | ESCC | regulation of macroautophagy | 102/8552 | 141/18723 | 1.09e-10 | 3.27e-09 | 102 |
GO:000150317 | Esophagus | ESCC | ossification | 232/8552 | 408/18723 | 3.00e-06 | 3.40e-05 | 232 |
GO:00066318 | Esophagus | ESCC | fatty acid metabolic process | 217/8552 | 390/18723 | 4.21e-05 | 3.39e-04 | 217 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:000669211 | Esophagus | ESCC | prostanoid metabolic process | 33/8552 | 49/18723 | 1.80e-03 | 8.26e-03 | 33 |
GO:000669311 | Esophagus | ESCC | prostaglandin metabolic process | 33/8552 | 49/18723 | 1.80e-03 | 8.26e-03 | 33 |
GO:00458511 | Esophagus | ESCC | pH reduction | 31/8552 | 46/18723 | 2.42e-03 | 1.06e-02 | 31 |
GO:190260018 | Esophagus | ESCC | proton transmembrane transport | 88/8552 | 157/18723 | 5.62e-03 | 2.10e-02 | 88 |
GO:00700711 | Esophagus | ESCC | proton-transporting two-sector ATPase complex assembly | 12/8552 | 15/18723 | 7.31e-03 | 2.63e-02 | 12 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0516510 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa0532320 | Esophagus | ESCC | Rheumatoid arthritis | 59/4205 | 93/8465 | 4.98e-03 | 1.27e-02 | 6.52e-03 | 59 |
hsa0516515 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa05323110 | Esophagus | ESCC | Rheumatoid arthritis | 59/4205 | 93/8465 | 4.98e-03 | 1.27e-02 | 6.52e-03 | 59 |
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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 |
ATP6V1B1 | SNV | Missense_Mutation | novel | c.1050N>A | p.Met350Ile | p.M350I | P15313 | protein_coding | deleterious(0) | probably_damaging(0.941) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP6V1B1 | SNV | Missense_Mutation | rs782443411 | c.347C>T | p.Pro116Leu | p.P116L | P15313 | protein_coding | deleterious(0) | possibly_damaging(0.718) | TCGA-BK-A0C9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP6V1B1 | SNV | Missense_Mutation | c.1362N>T | p.Lys454Asn | p.K454N | P15313 | protein_coding | tolerated(0.16) | benign(0.02) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ATP6V1B1 | SNV | Missense_Mutation | c.1169C>A | p.Pro390His | p.P390H | P15313 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-D1-A15X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ATP6V1B1 | SNV | Missense_Mutation | rs782603735 | c.605N>A | p.Arg202His | p.R202H | P15313 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-D1-A161-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP6V1B1 | SNV | Missense_Mutation | rs782603735 | c.605G>A | p.Arg202His | p.R202H | P15313 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-D1-A2G0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP6V1B1 | SNV | Missense_Mutation | novel | c.932N>G | p.Val311Gly | p.V311G | P15313 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-DF-A2KV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP6V1B1 | SNV | Missense_Mutation | novel | c.1129C>T | p.Leu377Phe | p.L377F | P15313 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP6V1B1 | SNV | Missense_Mutation | novel | c.1180N>T | p.Arg394Trp | p.R394W | P15313 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP6V1B1 | SNV | Missense_Mutation | novel | c.1032N>T | p.Gln344His | p.Q344H | P15313 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-EY-A215-01 | 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 |
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