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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:000609122 | Liver | HCC | generation of precursor metabolites and energy | 340/7958 | 490/18723 | 4.04e-34 | 2.85e-31 | 340 |
GO:000989622 | Liver | HCC | positive regulation of catabolic process | 335/7958 | 492/18723 | 3.83e-31 | 1.87e-28 | 335 |
GO:003133122 | Liver | HCC | positive regulation of cellular catabolic process | 295/7958 | 427/18723 | 3.20e-29 | 1.45e-26 | 295 |
GO:004427021 | Liver | HCC | cellular nitrogen compound catabolic process | 303/7958 | 451/18723 | 9.76e-27 | 3.64e-24 | 303 |
GO:004670021 | Liver | HCC | heterocycle catabolic process | 299/7958 | 445/18723 | 2.07e-26 | 7.29e-24 | 299 |
GO:190136121 | Liver | HCC | organic cyclic compound catabolic process | 325/7958 | 495/18723 | 6.52e-26 | 2.18e-23 | 325 |
GO:001943921 | Liver | HCC | aromatic compound catabolic process | 309/7958 | 467/18723 | 1.56e-25 | 4.94e-23 | 309 |
GO:003465521 | Liver | HCC | nucleobase-containing compound catabolic process | 273/7958 | 407/18723 | 4.84e-24 | 1.23e-21 | 273 |
GO:000906012 | Liver | HCC | aerobic respiration | 147/7958 | 189/18723 | 3.13e-23 | 6.61e-21 | 147 |
GO:004533312 | Liver | HCC | cellular respiration | 171/7958 | 230/18723 | 6.35e-23 | 1.26e-20 | 171 |
GO:004603422 | Liver | HCC | ATP metabolic process | 198/7958 | 277/18723 | 8.30e-23 | 1.55e-20 | 198 |
GO:001598022 | Liver | HCC | energy derivation by oxidation of organic compounds | 221/7958 | 318/18723 | 1.02e-22 | 1.86e-20 | 221 |
GO:000697922 | Liver | HCC | response to oxidative stress | 281/7958 | 446/18723 | 9.75e-19 | 1.24e-16 | 281 |
GO:000611912 | Liver | HCC | oxidative phosphorylation | 110/7958 | 141/18723 | 6.58e-18 | 7.45e-16 | 110 |
GO:000911722 | Liver | HCC | nucleotide metabolic process | 300/7958 | 489/18723 | 1.61e-17 | 1.71e-15 | 300 |
GO:000675322 | Liver | HCC | nucleoside phosphate metabolic process | 304/7958 | 497/18723 | 1.78e-17 | 1.85e-15 | 304 |
GO:001969322 | Liver | HCC | ribose phosphate metabolic process | 248/7958 | 396/18723 | 3.15e-16 | 2.70e-14 | 248 |
GO:006219722 | Liver | HCC | cellular response to chemical stress | 216/7958 | 337/18723 | 6.86e-16 | 5.44e-14 | 216 |
GO:000925922 | Liver | HCC | ribonucleotide metabolic process | 240/7958 | 385/18723 | 2.07e-15 | 1.51e-13 | 240 |
GO:001593111 | Liver | HCC | nucleobase-containing compound transport | 150/7958 | 222/18723 | 3.17e-14 | 2.03e-12 | 150 |
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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.1730N>G | p.Glu577Gly | p.E577G | P33897 | protein_coding | tolerated(0.3) | possibly_damaging(0.777) | TCGA-BR-7707-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ABCD1 | SNV | Missense_Mutation | c.597N>T | p.Glu199Asp | p.E199D | P33897 | protein_coding | tolerated(0.37) | benign(0.253) | TCGA-BR-8590-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | etoposide | PD | |
ABCD1 | SNV | Missense_Mutation | c.1184C>T | p.Ala395Val | p.A395V | P33897 | protein_coding | deleterious(0.01) | benign(0.058) | TCGA-BR-8680-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | CR | |
ABCD1 | SNV | Missense_Mutation | c.1628C>T | p.Pro543Leu | p.P543L | P33897 | protein_coding | deleterious(0) | possibly_damaging(0.449) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response | ||
ABCD1 | SNV | Missense_Mutation | novel | c.1651G>T | p.Gly551Cys | p.G551C | P33897 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-VQ-A924-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ABCD1 | SNV | Missense_Mutation | rs782596655 | c.1471G>C | p.Ala491Pro | p.A491P | P33897 | protein_coding | tolerated(0.51) | benign(0) | TCGA-DJ-A3VD-01 | Thyroid | thyroid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCD1 | SNV | Missense_Mutation | c.572G>A | p.Arg191His | p.R191H | P33897 | protein_coding | tolerated(0.06) | possibly_damaging(0.803) | TCGA-IM-A3U3-01 | Thyroid | thyroid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ABCD1 | SNV | Missense_Mutation | rs782723557 | c.701G>A | p.Arg234His | p.R234H | P33897 | protein_coding | tolerated(0.21) | benign(0.051) | TCGA-KS-A41I-01 | Thyroid | thyroid carcinoma | Female | <65 | I/II | Hormone Therapy | synthroid | 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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