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Gene: EFCAB13 |
Gene summary for EFCAB13 |
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Gene information | Species | Human | Gene symbol | EFCAB13 | Gene ID | 124989 |
Gene name | EF-hand calcium binding domain 13 | |
Gene Alias | C17orf57 | |
Cytomap | 17q21.32 | |
Gene Type | protein-coding | GO ID | NA | UniProtAcc | Q8IY85 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
124989 | EFCAB13 | male-WTA | Human | Thyroid | PTC | 1.25e-05 | 1.11e-01 | 0.1037 |
124989 | EFCAB13 | PTC01 | Human | Thyroid | PTC | 1.13e-11 | 2.33e-01 | 0.1899 |
124989 | EFCAB13 | PTC04 | Human | Thyroid | PTC | 1.54e-20 | 3.87e-01 | 0.1927 |
124989 | EFCAB13 | PTC05 | Human | Thyroid | PTC | 2.27e-12 | 4.74e-01 | 0.2065 |
124989 | EFCAB13 | PTC06 | Human | Thyroid | PTC | 5.53e-29 | 6.13e-01 | 0.2057 |
124989 | EFCAB13 | PTC07 | Human | Thyroid | PTC | 2.80e-17 | 2.94e-01 | 0.2044 |
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Tissue | Expression Dynamics | Abbreviation |
Thyroid | ![]() | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis | ||
PTC: Papillary thyroid cancer |
∗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 |
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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 |
EFCAB13 | SNV | Missense_Mutation | rs758376019 | c.1996N>T | p.Arg666Cys | p.R666C | Q8IY85 | protein_coding | tolerated(0.23) | possibly_damaging(0.83) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
EFCAB13 | insertion | Frame_Shift_Ins | novel | c.1079_1080insA | p.Asn362LysfsTer16 | p.N362Kfs*16 | Q8IY85 | protein_coding | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
EFCAB13 | deletion | Frame_Shift_Del | rs759569556 | c.1024delA | p.Ser342AlafsTer25 | p.S342Afs*25 | Q8IY85 | protein_coding | TCGA-AJ-A8CW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
EFCAB13 | deletion | Frame_Shift_Del | novel | c.1793delN | p.Lys599AsnfsTer2 | p.K599Nfs*2 | Q8IY85 | protein_coding | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
EFCAB13 | insertion | Frame_Shift_Ins | novel | c.490_491insATAC | p.Gly164AspfsTer14 | p.G164Dfs*14 | Q8IY85 | protein_coding | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | ||
EFCAB13 | deletion | Frame_Shift_Del | rs759569556 | c.1018delN | p.Ser342AlafsTer25 | p.S342Afs*25 | Q8IY85 | protein_coding | TCGA-AX-A1C5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | SD | ||
EFCAB13 | deletion | Frame_Shift_Del | rs759569556 | c.1024delA | p.Ser342AlafsTer25 | p.S342Afs*25 | Q8IY85 | protein_coding | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
EFCAB13 | deletion | Frame_Shift_Del | rs759569556 | c.1018delN | p.Ser342AlafsTer25 | p.S342Afs*25 | Q8IY85 | protein_coding | TCGA-SL-A6JA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
EFCAB13 | SNV | Missense_Mutation | c.378N>A | p.Asn126Lys | p.N126K | Q8IY85 | protein_coding | tolerated(0.12) | benign(0.205) | TCGA-DD-A73C-01 | Liver | liver hepatocellular carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
EFCAB13 | SNV | Missense_Mutation | novel | c.2506N>G | p.Leu836Val | p.L836V | Q8IY85 | protein_coding | tolerated(0.06) | benign(0.3) | TCGA-DD-AACS-01 | Liver | liver hepatocellular carcinoma | Male | <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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