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Gene: ABCD1 |
Gene summary for ABCD1 |
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Gene information | Species | Human | Gene symbol | ABCD1 | Gene ID | 215 |
Gene name | ATP binding cassette subfamily D member 1 | |
Gene Alias | ABC42 | |
Cytomap | Xq28 | |
Gene Type | protein-coding | GO ID | GO:0000038 | UniProtAcc | P33897 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
215 | ABCD1 | HCC1_Meng | Human | Liver | HCC | 3.38e-17 | 2.86e-02 | 0.0246 |
215 | ABCD1 | HCC2_Meng | Human | Liver | HCC | 5.21e-11 | 1.20e-01 | 0.0107 |
215 | ABCD1 | S014 | Human | Liver | HCC | 5.66e-14 | 4.13e-01 | 0.2254 |
215 | ABCD1 | S015 | Human | Liver | HCC | 1.71e-11 | 5.07e-01 | 0.2375 |
215 | ABCD1 | S016 | Human | Liver | HCC | 2.76e-19 | 5.43e-01 | 0.2243 |
215 | ABCD1 | S027 | Human | Liver | HCC | 1.74e-24 | 1.50e+00 | 0.2446 |
215 | ABCD1 | S028 | Human | Liver | HCC | 8.33e-51 | 1.59e+00 | 0.2503 |
215 | ABCD1 | S029 | Human | Liver | HCC | 2.68e-34 | 1.32e+00 | 0.2581 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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:00463201 | Liver | HCC | regulation of fatty acid oxidation | 21/7958 | 33/18723 | 1.16e-02 | 4.28e-02 | 21 |
GO:000167621 | Liver | HCC | long-chain fatty acid metabolic process | 60/7958 | 112/18723 | 1.17e-02 | 4.28e-02 | 60 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa041464 | Liver | HCC | Peroxisome | 58/4020 | 82/8465 | 1.57e-05 | 1.05e-04 | 5.85e-05 | 58 |
hsa020102 | Liver | HCC | ABC transporters | 29/4020 | 45/8465 | 1.62e-02 | 3.88e-02 | 2.16e-02 | 29 |
hsa041465 | Liver | HCC | Peroxisome | 58/4020 | 82/8465 | 1.57e-05 | 1.05e-04 | 5.85e-05 | 58 |
hsa020103 | Liver | HCC | ABC transporters | 29/4020 | 45/8465 | 1.62e-02 | 3.88e-02 | 2.16e-02 | 29 |
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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 |
ABCD1 | SNV | Missense_Mutation | c.748N>A | p.Val250Met | p.V250M | P33897 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-E9-A295-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | |
ABCD1 | SNV | Missense_Mutation | c.951N>G | p.Ile317Met | p.I317M | P33897 | protein_coding | tolerated(1) | benign(0.048) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR | |
ABCD1 | SNV | Missense_Mutation | c.731N>T | p.Ser244Leu | p.S244L | P33897 | protein_coding | tolerated(0.7) | benign(0.099) | TCGA-C5-A1BF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |
ABCD1 | SNV | Missense_Mutation | novel | c.1475N>A | p.Ser492Asn | p.S492N | P33897 | protein_coding | tolerated(0.13) | benign(0.005) | TCGA-C5-A8ZZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unspecific | Cisplatin | SD |
ABCD1 | SNV | Missense_Mutation | novel | c.190N>C | p.Lys64Gln | p.K64Q | P33897 | protein_coding | tolerated(0.15) | benign(0.035) | TCGA-C5-A907-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
ABCD1 | SNV | Missense_Mutation | c.220C>T | p.Arg74Trp | p.R74W | P33897 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-EA-A411-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
ABCD1 | SNV | Missense_Mutation | c.455N>A | p.Arg152His | p.R152H | P33897 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | |
ABCD1 | SNV | Missense_Mutation | c.1372N>A | p.Glu458Lys | p.E458K | P33897 | protein_coding | tolerated(0.24) | benign(0.109) | TCGA-UC-A7PG-06 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD | |
ABCD1 | SNV | Missense_Mutation | novel | c.2132N>T | p.Arg711Leu | p.R711L | P33897 | protein_coding | tolerated(0.06) | benign(0.007) | TCGA-VS-A8EC-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
ABCD1 | SNV | Missense_Mutation | rs193922097 | c.421G>A | p.Ala141Thr | p.A141T | P33897 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A6-2681-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
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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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