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Gene: NTHL1 |
Gene summary for NTHL1 |
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Gene information | Species | Human | Gene symbol | NTHL1 | Gene ID | 4913 |
Gene name | nth like DNA glycosylase 1 | |
Gene Alias | FAP3 | |
Cytomap | 16p13.3 | |
Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | P78549 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4913 | NTHL1 | LZE4T | Human | Esophagus | ESCC | 2.36e-07 | 1.67e-01 | 0.0811 |
4913 | NTHL1 | LZE7T | Human | Esophagus | ESCC | 1.40e-08 | 4.46e-01 | 0.0667 |
4913 | NTHL1 | LZE21D1 | Human | Esophagus | HGIN | 3.46e-02 | 2.52e-01 | 0.0632 |
4913 | NTHL1 | LZE22T | Human | Esophagus | ESCC | 1.05e-03 | 3.44e-01 | 0.068 |
4913 | NTHL1 | LZE24T | Human | Esophagus | ESCC | 1.46e-06 | 1.80e-01 | 0.0596 |
4913 | NTHL1 | LZE21T | Human | Esophagus | ESCC | 9.56e-07 | 5.94e-01 | 0.0655 |
4913 | NTHL1 | LZE6T | Human | Esophagus | ESCC | 1.71e-07 | 2.36e-01 | 0.0845 |
4913 | NTHL1 | P1T-E | Human | Esophagus | ESCC | 6.12e-10 | 4.80e-01 | 0.0875 |
4913 | NTHL1 | P2T-E | Human | Esophagus | ESCC | 1.45e-40 | 8.34e-01 | 0.1177 |
4913 | NTHL1 | P4T-E | Human | Esophagus | ESCC | 2.89e-30 | 7.32e-01 | 0.1323 |
4913 | NTHL1 | P5T-E | Human | Esophagus | ESCC | 2.66e-26 | 4.27e-01 | 0.1327 |
4913 | NTHL1 | P8T-E | Human | Esophagus | ESCC | 3.66e-32 | 5.46e-01 | 0.0889 |
4913 | NTHL1 | P9T-E | Human | Esophagus | ESCC | 7.56e-12 | 2.69e-01 | 0.1131 |
4913 | NTHL1 | P10T-E | Human | Esophagus | ESCC | 5.34e-18 | 1.51e-01 | 0.116 |
4913 | NTHL1 | P11T-E | Human | Esophagus | ESCC | 3.98e-14 | 4.20e-01 | 0.1426 |
4913 | NTHL1 | P12T-E | Human | Esophagus | ESCC | 5.02e-37 | 6.84e-01 | 0.1122 |
4913 | NTHL1 | P15T-E | Human | Esophagus | ESCC | 1.54e-24 | 5.16e-01 | 0.1149 |
4913 | NTHL1 | P16T-E | Human | Esophagus | ESCC | 1.81e-27 | 3.52e-01 | 0.1153 |
4913 | NTHL1 | P17T-E | Human | Esophagus | ESCC | 9.82e-14 | 4.51e-01 | 0.1278 |
4913 | NTHL1 | P19T-E | Human | Esophagus | ESCC | 2.11e-07 | 6.99e-01 | 0.1662 |
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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 |
Oral cavity | OSCC | ![]() |
Oral cavity | LP | ![]() |
Oral cavity | EOLP | ![]() |
Oral cavity | NEOLP | ![]() |
Esophagus | HGIN | ![]() |
∗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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003465519 | Esophagus | HGIN | nucleobase-containing compound catabolic process | 98/2587 | 407/18723 | 1.44e-08 | 8.94e-07 | 98 |
GO:004670017 | Esophagus | HGIN | heterocycle catabolic process | 103/2587 | 445/18723 | 5.44e-08 | 2.99e-06 | 103 |
GO:004427018 | Esophagus | HGIN | cellular nitrogen compound catabolic process | 103/2587 | 451/18723 | 1.10e-07 | 5.56e-06 | 103 |
GO:001943917 | Esophagus | HGIN | aromatic compound catabolic process | 105/2587 | 467/18723 | 1.89e-07 | 9.31e-06 | 105 |
GO:190136117 | Esophagus | HGIN | organic cyclic compound catabolic process | 106/2587 | 495/18723 | 1.94e-06 | 7.13e-05 | 106 |
GO:00196924 | Esophagus | HGIN | deoxyribose phosphate metabolic process | 16/2587 | 42/18723 | 7.90e-05 | 1.76e-03 | 16 |
GO:00092624 | Esophagus | HGIN | deoxyribonucleotide metabolic process | 16/2587 | 44/18723 | 1.51e-04 | 2.97e-03 | 16 |
GO:00093944 | Esophagus | HGIN | 2'-deoxyribonucleotide metabolic process | 15/2587 | 40/18723 | 1.62e-04 | 3.16e-03 | 15 |
GO:00092643 | Esophagus | HGIN | deoxyribonucleotide catabolic process | 12/2587 | 30/18723 | 3.62e-04 | 5.68e-03 | 12 |
GO:00463863 | Esophagus | HGIN | deoxyribose phosphate catabolic process | 12/2587 | 31/18723 | 5.17e-04 | 7.46e-03 | 12 |
GO:000911720 | Esophagus | HGIN | nucleotide metabolic process | 92/2587 | 489/18723 | 1.11e-03 | 1.36e-02 | 92 |
GO:000675320 | Esophagus | HGIN | nucleoside phosphate metabolic process | 93/2587 | 497/18723 | 1.25e-03 | 1.49e-02 | 93 |
GO:00092233 | Esophagus | HGIN | pyrimidine deoxyribonucleotide catabolic process | 8/2587 | 19/18723 | 2.40e-03 | 2.41e-02 | 8 |
GO:0006285 | Esophagus | HGIN | base-excision repair, AP site formation | 6/2587 | 12/18723 | 3.03e-03 | 2.88e-02 | 6 |
GO:00092193 | Esophagus | HGIN | pyrimidine deoxyribonucleotide metabolic process | 9/2587 | 24/18723 | 3.33e-03 | 3.12e-02 | 9 |
GO:00062442 | Esophagus | HGIN | pyrimidine nucleotide catabolic process | 8/2587 | 21/18723 | 5.00e-03 | 4.19e-02 | 8 |
GO:00062892 | Esophagus | HGIN | nucleotide-excision repair | 16/2587 | 60/18723 | 6.22e-03 | 4.95e-02 | 16 |
GO:0034655110 | Esophagus | ESCC | nucleobase-containing compound catabolic process | 272/8552 | 407/18723 | 2.92e-18 | 2.90e-16 | 272 |
GO:004670018 | Esophagus | ESCC | heterocycle catabolic process | 286/8552 | 445/18723 | 1.12e-15 | 7.47e-14 | 286 |
GO:004427019 | Esophagus | ESCC | cellular nitrogen compound catabolic process | 288/8552 | 451/18723 | 3.03e-15 | 1.79e-13 | 288 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa034104 | Esophagus | ESCC | Base excision repair | 38/4205 | 44/8465 | 3.59e-07 | 2.62e-06 | 1.34e-06 | 38 |
hsa0341011 | Esophagus | ESCC | Base excision repair | 38/4205 | 44/8465 | 3.59e-07 | 2.62e-06 | 1.34e-06 | 38 |
hsa03410 | Oral cavity | OSCC | Base excision repair | 32/3704 | 44/8465 | 9.11e-05 | 3.25e-04 | 1.65e-04 | 32 |
hsa034101 | Oral cavity | OSCC | Base excision repair | 32/3704 | 44/8465 | 9.11e-05 | 3.25e-04 | 1.65e-04 | 32 |
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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 |
NTHL1 | SNV | Missense_Mutation | c.773C>T | p.Ser258Phe | p.S258F | P78549 | protein_coding | deleterious(0.04) | possibly_damaging(0.492) | TCGA-C8-A131-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR | |
NTHL1 | SNV | Missense_Mutation | c.214N>A | p.Asp72Asn | p.D72N | P78549 | protein_coding | tolerated(0.16) | benign(0.001) | TCGA-D8-A142-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamid | SD | |
NTHL1 | deletion | Frame_Shift_Del | novel | c.685delG | p.Ala229ProfsTer21 | p.A229Pfs*21 | P78549 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
NTHL1 | SNV | Missense_Mutation | novel | c.731N>A | p.Arg244Lys | p.R244K | P78549 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
NTHL1 | SNV | Missense_Mutation | rs139165943 | c.173N>T | p.Pro58Leu | p.P58L | P78549 | protein_coding | tolerated(0.25) | benign(0.037) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NTHL1 | SNV | Missense_Mutation | rs756036462 | c.788N>A | p.Arg263His | p.R263H | P78549 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NTHL1 | SNV | Missense_Mutation | c.272N>G | p.Asp91Gly | p.D91G | P78549 | protein_coding | tolerated(0.05) | benign(0) | TCGA-G4-6304-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | PD | |
NTHL1 | SNV | Missense_Mutation | c.236N>A | p.Ala79Asp | p.A79D | P78549 | protein_coding | tolerated(0.17) | benign(0.001) | TCGA-CI-6621-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
NTHL1 | insertion | Frame_Shift_Ins | rs763525759 | c.374dupC | p.Val127GlyfsTer43 | p.V127Gfs*43 | P78549 | protein_coding | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
NTHL1 | SNV | Missense_Mutation | novel | c.509N>T | p.Ala170Val | p.A170V | P78549 | protein_coding | tolerated(0.21) | benign(0.043) | TCGA-A5-A0G1-01 | 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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