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Gene: LRFN1 |
Gene summary for LRFN1 |
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Gene information | Species | Human | Gene symbol | LRFN1 | Gene ID | 57622 |
Gene name | leucine rich repeat and fibronectin type III domain containing 1 | |
Gene Alias | SALM2 | |
Cytomap | 19q13.2 | |
Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | Q9P244 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
57622 | LRFN1 | ATC13 | Human | Thyroid | ATC | 6.16e-27 | 5.45e-01 | 0.34 |
57622 | LRFN1 | ATC5 | Human | Thyroid | ATC | 1.85e-30 | 5.77e-01 | 0.34 |
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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 |
GO:003432924 | Thyroid | ATC | cell junction assembly | 187/6293 | 420/18723 | 1.71e-06 | 2.08e-05 | 187 |
GO:190211522 | Thyroid | ATC | regulation of organelle assembly | 90/6293 | 186/18723 | 2.00e-05 | 1.81e-04 | 90 |
GO:190188818 | Thyroid | ATC | regulation of cell junction assembly | 94/6293 | 204/18723 | 1.38e-04 | 9.65e-04 | 94 |
GO:009917314 | Thyroid | ATC | postsynapse organization | 78/6293 | 168/18723 | 3.66e-04 | 2.26e-03 | 78 |
GO:009917512 | Thyroid | ATC | regulation of postsynapse organization | 44/6293 | 90/18723 | 1.89e-03 | 9.27e-03 | 44 |
GO:005080712 | Thyroid | ATC | regulation of synapse organization | 87/6293 | 211/18723 | 1.20e-02 | 4.27e-02 | 87 |
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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 |
LRFN1 | SNV | Missense_Mutation | rs753368407 | c.905N>T | p.Thr302Ile | p.T302I | Q9P244 | protein_coding | deleterious(0.03) | probably_damaging(0.995) | TCGA-A1-A0SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD |
LRFN1 | SNV | Missense_Mutation | c.2162G>C | p.Arg721Pro | p.R721P | Q9P244 | protein_coding | deleterious(0.03) | probably_damaging(0.993) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
LRFN1 | SNV | Missense_Mutation | c.746T>G | p.Phe249Cys | p.F249C | Q9P244 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-C5-A0TN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |
LRFN1 | SNV | Missense_Mutation | novel | c.1751N>T | p.Ser584Leu | p.S584L | Q9P244 | protein_coding | deleterious(0) | benign(0.003) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
LRFN1 | SNV | Missense_Mutation | c.1477G>A | p.Val493Met | p.V493M | Q9P244 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-C5-A7UH-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
LRFN1 | SNV | Missense_Mutation | novel | c.677N>T | p.Pro226Leu | p.P226L | Q9P244 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-C5-A8YR-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
LRFN1 | SNV | Missense_Mutation | c.1279C>T | p.Arg427Trp | p.R427W | Q9P244 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-EK-A2PL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
LRFN1 | SNV | Missense_Mutation | rs748368845 | c.605N>T | p.Ala202Val | p.A202V | Q9P244 | protein_coding | deleterious(0.01) | possibly_damaging(0.77) | TCGA-LP-A4AX-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
LRFN1 | SNV | Missense_Mutation | novel | c.1046T>C | p.Val349Ala | p.V349A | Q9P244 | protein_coding | tolerated(0.16) | benign(0.048) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LRFN1 | SNV | Missense_Mutation | rs370219349 | c.805N>A | p.Glu269Lys | p.E269K | Q9P244 | protein_coding | deleterious(0.01) | possibly_damaging(0.877) | TCGA-AZ-4313-01 | 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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