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Gene: KLHL41 |
Gene summary for KLHL41 |
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Gene information | Species | Human | Gene symbol | KLHL41 | Gene ID | 10324 |
Gene name | kelch like family member 41 | |
Gene Alias | KBTBD10 | |
Cytomap | 2q31.1 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | O60662 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
10324 | KLHL41 | C08 | Human | Oral cavity | OSCC | 3.50e-02 | -2.98e-01 | 0.1919 |
10324 | KLHL41 | LP16 | Human | Oral cavity | LP | 9.63e-03 | 6.56e-01 | 0.1055 |
10324 | KLHL41 | EOLP-2 | Human | Oral cavity | EOLP | 1.77e-03 | -2.98e-01 | -0.0203 |
10324 | KLHL41 | NEOLP-1 | Human | Oral cavity | NEOLP | 3.50e-02 | -2.97e-01 | -0.0194 |
10324 | KLHL41 | NEOLP-2 | Human | Oral cavity | NEOLP | 3.50e-02 | -2.96e-01 | -0.0196 |
10324 | KLHL41 | SYSMH1 | Human | Oral cavity | OSCC | 3.50e-02 | -2.98e-01 | 0.1127 |
10324 | KLHL41 | SYSMH3 | Human | Oral cavity | OSCC | 3.76e-02 | -2.54e-01 | 0.2442 |
10324 | KLHL41 | SYSMH4 | Human | Oral cavity | OSCC | 1.14e-02 | -2.97e-01 | 0.1226 |
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Tissue | Expression Dynamics | Abbreviation |
Oral Cavity | ![]() | EOLP: Erosive Oral lichen planus |
LP: leukoplakia | ||
NEOLP: Non-erosive oral lichen planus | ||
OSCC: Oral squamous cell carcinoma |
∗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:00454453 | Oral cavity | OSCC | myoblast differentiation | 46/7305 | 84/18723 | 2.43e-03 | 1.07e-02 | 46 |
GO:00605378 | Oral cavity | OSCC | muscle tissue development | 185/7305 | 403/18723 | 2.60e-03 | 1.14e-02 | 185 |
GO:00426927 | Oral cavity | OSCC | muscle cell differentiation | 175/7305 | 384/18723 | 4.79e-03 | 1.92e-02 | 175 |
GO:00147067 | Oral cavity | OSCC | striated muscle tissue development | 174/7305 | 384/18723 | 6.45e-03 | 2.40e-02 | 174 |
GO:003103217 | Oral cavity | OSCC | actomyosin structure organization | 93/7305 | 196/18723 | 9.63e-03 | 3.41e-02 | 93 |
GO:004544512 | Oral cavity | LP | myoblast differentiation | 35/4623 | 84/18723 | 4.56e-04 | 4.33e-03 | 35 |
GO:0045661 | Oral cavity | LP | regulation of myoblast differentiation | 22/4623 | 51/18723 | 2.96e-03 | 2.03e-02 | 22 |
GO:004269214 | Oral cavity | EOLP | muscle cell differentiation | 77/2218 | 384/18723 | 2.18e-06 | 4.91e-05 | 77 |
GO:006053715 | Oral cavity | EOLP | muscle tissue development | 77/2218 | 403/18723 | 1.37e-05 | 2.31e-04 | 77 |
GO:00511467 | Oral cavity | EOLP | striated muscle cell differentiation | 57/2218 | 283/18723 | 3.82e-05 | 5.25e-04 | 57 |
GO:001470614 | Oral cavity | EOLP | striated muscle tissue development | 72/2218 | 384/18723 | 4.87e-05 | 6.43e-04 | 72 |
GO:00605384 | Oral cavity | EOLP | skeletal muscle organ development | 35/2218 | 166/18723 | 4.65e-04 | 4.08e-03 | 35 |
GO:003103218 | Oral cavity | EOLP | actomyosin structure organization | 39/2218 | 196/18723 | 7.64e-04 | 6.12e-03 | 39 |
GO:00075195 | Oral cavity | EOLP | skeletal muscle tissue development | 32/2218 | 155/18723 | 1.15e-03 | 8.37e-03 | 32 |
GO:00075176 | Oral cavity | EOLP | muscle organ development | 57/2218 | 327/18723 | 1.76e-03 | 1.15e-02 | 57 |
GO:00550013 | Oral cavity | EOLP | muscle cell development | 34/2218 | 184/18723 | 5.53e-03 | 2.86e-02 | 34 |
GO:00030128 | Oral cavity | EOLP | muscle system process | 71/2218 | 452/18723 | 7.83e-03 | 3.73e-02 | 71 |
GO:006053723 | Oral cavity | NEOLP | muscle tissue development | 75/2005 | 403/18723 | 1.22e-06 | 3.15e-05 | 75 |
GO:003103224 | Oral cavity | NEOLP | actomyosin structure organization | 44/2005 | 196/18723 | 1.42e-06 | 3.58e-05 | 44 |
GO:004269221 | Oral cavity | NEOLP | muscle cell differentiation | 71/2005 | 384/18723 | 2.97e-06 | 6.76e-05 | 71 |
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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 |
KLHL41 | SNV | Missense_Mutation | rs190032295 | c.1114N>A | p.Asp372Asn | p.D372N | O60662 | protein_coding | tolerated(0.05) | probably_damaging(0.967) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
KLHL41 | SNV | Missense_Mutation | c.1387N>G | p.Asn463Asp | p.N463D | O60662 | protein_coding | tolerated(0.36) | benign(0.347) | TCGA-DC-6160-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
KLHL41 | SNV | Missense_Mutation | novel | c.732C>A | p.Ser244Arg | p.S244R | O60662 | protein_coding | tolerated(0.06) | possibly_damaging(0.536) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
KLHL41 | SNV | Missense_Mutation | novel | c.1808N>G | p.Leu603Arg | p.L603R | O60662 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
KLHL41 | insertion | Frame_Shift_Ins | novel | c.1289_1290insA | p.Leu433ThrfsTer9 | p.L433Tfs*9 | O60662 | protein_coding | TCGA-AA-3841-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | folinic | CR | ||
KLHL41 | insertion | Frame_Shift_Ins | novel | c.1756_1757insAAATGTG | p.Arg586GlnfsTer9 | p.R586Qfs*9 | O60662 | protein_coding | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
KLHL41 | insertion | Frame_Shift_Ins | novel | c.690dupA | p.Tyr231IlefsTer3 | p.Y231Ifs*3 | O60662 | protein_coding | TCGA-D5-6541-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
KLHL41 | insertion | Frame_Shift_Ins | rs749464576 | c.1416dupA | p.Gly473ArgfsTer22 | p.G473Rfs*22 | O60662 | protein_coding | TCGA-EI-6507-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
KLHL41 | SNV | Missense_Mutation | novel | c.1012N>G | p.Ser338Ala | p.S338A | O60662 | protein_coding | tolerated(0.3) | benign(0) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KLHL41 | SNV | Missense_Mutation | rs781142922 | c.668N>A | p.Arg223His | p.R223H | O60662 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | 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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