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Gene: REPIN1 |
Gene summary for REPIN1 |
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Gene information | Species | Human | Gene symbol | REPIN1 | Gene ID | 29803 |
Gene name | replication initiator 1 | |
Gene Alias | AP4 | |
Cytomap | 7q36.1 | |
Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q9BWE0 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
29803 | REPIN1 | P26T-E | Human | Esophagus | ESCC | 4.97e-10 | 1.92e-01 | 0.1276 |
29803 | REPIN1 | P27T-E | Human | Esophagus | ESCC | 2.72e-15 | 2.05e-01 | 0.1055 |
29803 | REPIN1 | P28T-E | Human | Esophagus | ESCC | 1.46e-23 | 5.32e-01 | 0.1149 |
29803 | REPIN1 | P30T-E | Human | Esophagus | ESCC | 1.45e-11 | 4.48e-01 | 0.137 |
29803 | REPIN1 | P31T-E | Human | Esophagus | ESCC | 2.58e-12 | 1.54e-01 | 0.1251 |
29803 | REPIN1 | P36T-E | Human | Esophagus | ESCC | 2.07e-07 | 4.86e-02 | 0.1187 |
29803 | REPIN1 | P37T-E | Human | Esophagus | ESCC | 1.76e-10 | 7.73e-03 | 0.1371 |
29803 | REPIN1 | P39T-E | Human | Esophagus | ESCC | 4.31e-20 | 3.73e-01 | 0.0894 |
29803 | REPIN1 | P40T-E | Human | Esophagus | ESCC | 4.92e-03 | 2.37e-01 | 0.109 |
29803 | REPIN1 | P42T-E | Human | Esophagus | ESCC | 1.62e-10 | 1.84e-01 | 0.1175 |
29803 | REPIN1 | P44T-E | Human | Esophagus | ESCC | 2.80e-03 | 2.18e-02 | 0.1096 |
29803 | REPIN1 | P47T-E | Human | Esophagus | ESCC | 3.40e-08 | 8.92e-02 | 0.1067 |
29803 | REPIN1 | P48T-E | Human | Esophagus | ESCC | 1.15e-14 | 2.71e-01 | 0.0959 |
29803 | REPIN1 | P49T-E | Human | Esophagus | ESCC | 4.92e-02 | 9.29e-02 | 0.1768 |
29803 | REPIN1 | P52T-E | Human | Esophagus | ESCC | 1.24e-16 | 2.43e-01 | 0.1555 |
29803 | REPIN1 | P54T-E | Human | Esophagus | ESCC | 4.94e-08 | 2.09e-01 | 0.0975 |
29803 | REPIN1 | P56T-E | Human | Esophagus | ESCC | 5.25e-03 | 3.25e-01 | 0.1613 |
29803 | REPIN1 | P57T-E | Human | Esophagus | ESCC | 1.15e-10 | 2.25e-01 | 0.0926 |
29803 | REPIN1 | P61T-E | Human | Esophagus | ESCC | 1.41e-21 | 2.62e-01 | 0.099 |
29803 | REPIN1 | P62T-E | Human | Esophagus | ESCC | 8.88e-09 | 1.09e-02 | 0.1302 |
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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:0006260 | Colorectum | MSI-H | DNA replication | 31/1319 | 260/18723 | 2.83e-03 | 3.63e-02 | 31 |
GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:00062601 | Liver | HCC | DNA replication | 146/7958 | 260/18723 | 5.68e-06 | 7.02e-05 | 146 |
GO:00062603 | Oral cavity | OSCC | DNA replication | 159/7305 | 260/18723 | 3.25e-13 | 1.59e-11 | 159 |
GO:00062606 | Thyroid | PTC | DNA replication | 114/5968 | 260/18723 | 3.09e-05 | 2.95e-04 | 114 |
GO:000626013 | Thyroid | ATC | DNA replication | 124/6293 | 260/18723 | 1.58e-06 | 1.93e-05 | 124 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
REPIN1 | SNV | Missense_Mutation | novel | c.166G>A | p.Glu56Lys | p.E56K | Q9BWE0 | protein_coding | tolerated_low_confidence(0.07) | benign(0.023) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
REPIN1 | SNV | Missense_Mutation | c.1637G>A | p.Cys546Tyr | p.C546Y | Q9BWE0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
REPIN1 | SNV | Missense_Mutation | c.577N>T | p.Arg193Trp | p.R193W | Q9BWE0 | protein_coding | deleterious(0) | possibly_damaging(0.745) | TCGA-E9-A22H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
REPIN1 | SNV | Missense_Mutation | novel | c.1668N>T | p.Lys556Asn | p.K556N | Q9BWE0 | protein_coding | tolerated(0.14) | possibly_damaging(0.851) | TCGA-LL-A441-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
REPIN1 | SNV | Missense_Mutation | novel | c.1522C>T | p.Arg508Cys | p.R508C | Q9BWE0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-OL-A6VO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
REPIN1 | SNV | Missense_Mutation | novel | c.1432C>T | p.His478Tyr | p.H478Y | Q9BWE0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
REPIN1 | SNV | Missense_Mutation | c.1537N>A | p.Asp513Asn | p.D513N | Q9BWE0 | protein_coding | deleterious(0.01) | benign(0.159) | TCGA-BI-A0VR-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
REPIN1 | SNV | Missense_Mutation | rs759469837 | c.1018N>T | p.Arg340Trp | p.R340W | Q9BWE0 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-BI-A0VS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
REPIN1 | deletion | Frame_Shift_Del | rs759247453 | c.1287delC | p.Ser430ProfsTer? | p.S430Pfs*? | Q9BWE0 | protein_coding | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | ||
REPIN1 | SNV | Missense_Mutation | rs376711625 | c.482N>A | p.Arg161His | p.R161H | Q9BWE0 | protein_coding | tolerated(0.16) | benign(0) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | 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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