![]() |
|||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Gene: EFHD2 |
Gene summary for EFHD2 |
![]() |
Gene information | Species | Human | Gene symbol | EFHD2 | Gene ID | 79180 |
Gene name | EF-hand domain family member D2 | |
Gene Alias | SWS1 | |
Cytomap | 1p36.21 | |
Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | A0A024QZ77 |
Top |
Malignant transformation analysis |
![]() |
![]() |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
79180 | EFHD2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.14e-02 | 1.77e-01 | 0.0155 |
79180 | EFHD2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 2.98e-28 | 1.09e+00 | -0.1808 |
79180 | EFHD2 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.19e-14 | 7.40e-01 | -0.0811 |
79180 | EFHD2 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.76e-04 | 2.89e-01 | -0.1088 |
79180 | EFHD2 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.87e-19 | 5.89e-01 | -0.1954 |
79180 | EFHD2 | HTA11_411_2000001011 | Human | Colorectum | SER | 3.83e-11 | 1.58e+00 | -0.2602 |
79180 | EFHD2 | HTA11_2112_2000001011 | Human | Colorectum | SER | 9.32e-14 | 1.23e+00 | -0.2196 |
79180 | EFHD2 | HTA11_3361_2000001011 | Human | Colorectum | AD | 3.12e-06 | 4.69e-01 | -0.1207 |
79180 | EFHD2 | HTA11_83_2000001011 | Human | Colorectum | SER | 1.68e-06 | 5.17e-01 | -0.1526 |
79180 | EFHD2 | HTA11_696_2000001011 | Human | Colorectum | AD | 7.50e-33 | 8.46e-01 | -0.1464 |
79180 | EFHD2 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.99e-12 | 4.62e-01 | -0.1001 |
79180 | EFHD2 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.04e-23 | 8.07e-01 | -0.059 |
79180 | EFHD2 | HTA11_2992_2000001011 | Human | Colorectum | SER | 3.60e-09 | 8.50e-01 | -0.1706 |
79180 | EFHD2 | HTA11_5212_2000001011 | Human | Colorectum | AD | 6.69e-09 | 7.15e-01 | -0.2061 |
79180 | EFHD2 | HTA11_546_2000001011 | Human | Colorectum | AD | 4.14e-04 | 4.13e-01 | -0.0842 |
79180 | EFHD2 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.58e-02 | 2.07e-01 | 0.096 |
79180 | EFHD2 | HTA11_10623_2000001011 | Human | Colorectum | AD | 1.04e-06 | 5.54e-01 | -0.0177 |
79180 | EFHD2 | HTA11_6801_2000001011 | Human | Colorectum | SER | 8.35e-10 | 8.58e-01 | 0.0171 |
79180 | EFHD2 | HTA11_10711_2000001011 | Human | Colorectum | AD | 3.32e-03 | 3.36e-01 | 0.0338 |
79180 | EFHD2 | HTA11_7696_3000711011 | Human | Colorectum | AD | 2.15e-12 | 4.73e-01 | 0.0674 |
Page: 1 2 3 4 5 6 7 8 9 |
![]() |
∗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. |
Top |
Malignant transformation related pathway analysis |
![]() |
![]() |
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). |
Page: 1 2 3 4 5 6 7 8 9 |
![]() |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
Page: 1 |
![]() |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
Page: 1 |
Top |
Cell-cell communication analysis |
![]() |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
Page: 1 |
Top |
Single-cell gene regulatory network inference analysis |
![]() |
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. |
Page: 1 |
Top |
Somatic mutation of malignant transformation related genes |
![]() |
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 |
EFHD2 | SNV | Missense_Mutation | c.235N>A | p.Val79Ile | p.V79I | Q96C19 | protein_coding | tolerated(0.08) | benign(0.013) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
EFHD2 | SNV | Missense_Mutation | c.267N>A | p.Phe89Leu | p.F89L | Q96C19 | protein_coding | deleterious(0.04) | benign(0.384) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
EFHD2 | SNV | Missense_Mutation | c.475A>G | p.Lys159Glu | p.K159E | Q96C19 | protein_coding | deleterious(0.01) | possibly_damaging(0.844) | TCGA-CC-A7IF-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Unknown | Unknown | PD | |
EFHD2 | SNV | Missense_Mutation | c.279N>T | p.Gln93His | p.Q93H | Q96C19 | protein_coding | deleterious(0.04) | benign(0.125) | TCGA-86-7955-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | etoposide | PD | |
EFHD2 | SNV | Missense_Mutation | novel | c.488N>T | p.Gly163Val | p.G163V | Q96C19 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-56-7222-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD |
EFHD2 | SNV | Missense_Mutation | novel | c.310N>G | p.Tyr104Asp | p.Y104D | Q96C19 | protein_coding | deleterious(0) | probably_damaging(0.974) | TCGA-CN-5367-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
EFHD2 | SNV | Missense_Mutation | novel | c.263A>G | p.Glu88Gly | p.E88G | Q96C19 | protein_coding | deleterious(0.01) | possibly_damaging(0.714) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
EFHD2 | SNV | Missense_Mutation | rs562670393 | c.607G>A | p.Val203Met | p.V203M | Q96C19 | protein_coding | tolerated(0.11) | benign(0.276) | TCGA-BR-A4QL-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | CR |
EFHD2 | SNV | Missense_Mutation | novel | c.337N>A | p.Asp113Asn | p.D113N | Q96C19 | protein_coding | deleterious(0.03) | possibly_damaging(0.844) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response | |
EFHD2 | insertion | Frame_Shift_Ins | novel | c.441_442insGAGA | p.Leu148GlufsTer33 | p.L148Efs*33 | Q96C19 | protein_coding | TCGA-FY-A4B0-01 | Thyroid | thyroid carcinoma | Male | >=65 | I/II | Hormone Therapy | synthroid | SD |
Page: 1 |
Top |
Related drugs of malignant transformation related genes |
![]() |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
Page: 1 |