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Gene: KIAA0040 |
Gene summary for KIAA0040 |
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Gene information | Species | Human | Gene symbol | KIAA0040 | Gene ID | 9674 |
Gene name | KIAA0040 | |
Gene Alias | KIAA0040 | |
Cytomap | 1q25.1 | |
Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | J3QR46 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
9674 | KIAA0040 | C57 | Human | Oral cavity | OSCC | 1.40e-03 | -1.90e-01 | 0.1679 |
9674 | KIAA0040 | C08 | Human | Oral cavity | OSCC | 5.55e-10 | 7.15e-01 | 0.1919 |
9674 | KIAA0040 | NEOLP-2 | Human | Oral cavity | NEOLP | 4.02e-02 | 1.41e-01 | -0.0196 |
9674 | KIAA0040 | NEOLP-3 | Human | Oral cavity | NEOLP | 4.78e-02 | 2.45e-01 | -0.0191 |
9674 | KIAA0040 | SYSMH1 | Human | Oral cavity | OSCC | 1.41e-06 | -3.03e-01 | 0.1127 |
9674 | KIAA0040 | SYSMH2 | Human | Oral cavity | OSCC | 4.27e-03 | 3.01e-01 | 0.2326 |
9674 | KIAA0040 | SYSMH5 | Human | Oral cavity | OSCC | 4.73e-02 | -1.79e-01 | 0.0647 |
9674 | KIAA0040 | SYSMH6 | Human | Oral cavity | OSCC | 1.08e-02 | -1.31e-01 | 0.1275 |
9674 | KIAA0040 | GSM5252131_BPH340PrSF_Via | Human | Prostate | BPH | 4.73e-06 | 6.80e-01 | -0.2126 |
9674 | KIAA0040 | GSM5252132_BPH389PrGF | Human | Prostate | BPH | 1.13e-03 | 6.65e-01 | -0.2247 |
9674 | KIAA0040 | 047563_1562-all-cells | Human | Prostate | BPH | 1.65e-04 | -1.32e-01 | 0.0791 |
9674 | KIAA0040 | 052095_1628-all-cells | Human | Prostate | BPH | 4.38e-02 | -2.05e-01 | 0.1032 |
9674 | KIAA0040 | Dong_P1 | Human | Prostate | Tumor | 1.20e-17 | -8.49e-02 | 0.035 |
9674 | KIAA0040 | Dong_P3 | Human | Prostate | Tumor | 4.00e-04 | -1.75e-01 | 0.0278 |
9674 | KIAA0040 | Dong_P5 | Human | Prostate | Tumor | 8.65e-16 | -1.96e-01 | 0.053 |
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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 |
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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 |
KIAA0040 | SNV | Missense_Mutation | novel | c.21C>A | p.Phe7Leu | p.F7L | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
KIAA0040 | SNV | Missense_Mutation | novel | c.154N>G | p.Trp52Gly | p.W52G | protein_coding | tolerated(0.12) | possibly_damaging(0.661) | TCGA-C8-A3M8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR | |
KIAA0040 | deletion | Frame_Shift_Del | rs764422998 | c.204_205delNN | p.Lys69GlufsTer8 | p.K69Efs*8 | protein_coding | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |||
KIAA0040 | deletion | Frame_Shift_Del | rs767648441 | c.207delN | p.Lys70ArgfsTer32 | p.K70Rfs*32 | protein_coding | TCGA-DS-A7WF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |||
KIAA0040 | deletion | Frame_Shift_Del | rs756639306 | c.195_205delNNNNNNNNNNN | p.Asn65LysfsTer9 | p.N65Kfs*9 | protein_coding | TCGA-DS-A7WF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |||
KIAA0040 | insertion | In_Frame_Ins | novel | c.224_225insTAA | p.Lys74_Lys75insAsn | p.K74_K75insN | protein_coding | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |||
KIAA0040 | deletion | Frame_Shift_Del | rs767648441 | c.207delN | p.Lys70ArgfsTer32 | p.K70Rfs*32 | protein_coding | TCGA-ZJ-AAXI-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |||
KIAA0040 | deletion | Frame_Shift_Del | rs767648441 | c.207delN | p.Lys70ArgfsTer32 | p.K70Rfs*32 | protein_coding | TCGA-A6-3810-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |||
KIAA0040 | deletion | Frame_Shift_Del | rs756639306 | c.195_205delNNNNNNNNNNN | p.Asn65LysfsTer9 | p.N65Kfs*9 | protein_coding | TCGA-A6-3810-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |||
KIAA0040 | insertion | In_Frame_Ins | novel | c.225_226insAAGAAG | p.Lys74_Lys75dup | p.K74_K75dup | protein_coding | TCGA-AA-3989-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
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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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