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Gene: FMR1 |
Gene summary for FMR1 |
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Gene information | Species | Human | Gene symbol | FMR1 | Gene ID | 2332 |
Gene name | FMRP translational regulator 1 | |
Gene Alias | FMRP | |
Cytomap | Xq27.3 | |
Gene Type | protein-coding | GO ID | GO:0000375 | UniProtAcc | Q06787 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2332 | FMR1 | LZE4T | Human | Esophagus | ESCC | 8.09e-05 | 1.18e-01 | 0.0811 |
2332 | FMR1 | LZE7T | Human | Esophagus | ESCC | 5.27e-04 | 5.28e-01 | 0.0667 |
2332 | FMR1 | LZE20T | Human | Esophagus | ESCC | 1.82e-03 | 1.56e-01 | 0.0662 |
2332 | FMR1 | LZE24T | Human | Esophagus | ESCC | 3.58e-19 | 5.99e-01 | 0.0596 |
2332 | FMR1 | LZE21T | Human | Esophagus | ESCC | 1.96e-04 | 1.95e-01 | 0.0655 |
2332 | FMR1 | LZE6T | Human | Esophagus | ESCC | 1.36e-04 | 9.94e-02 | 0.0845 |
2332 | FMR1 | P1T-E | Human | Esophagus | ESCC | 1.56e-05 | 4.66e-01 | 0.0875 |
2332 | FMR1 | P2T-E | Human | Esophagus | ESCC | 9.72e-22 | 2.68e-01 | 0.1177 |
2332 | FMR1 | P4T-E | Human | Esophagus | ESCC | 3.22e-10 | 1.87e-01 | 0.1323 |
2332 | FMR1 | P5T-E | Human | Esophagus | ESCC | 1.14e-08 | 1.20e-01 | 0.1327 |
2332 | FMR1 | P8T-E | Human | Esophagus | ESCC | 7.01e-19 | 3.15e-01 | 0.0889 |
2332 | FMR1 | P9T-E | Human | Esophagus | ESCC | 1.05e-12 | 2.97e-01 | 0.1131 |
2332 | FMR1 | P10T-E | Human | Esophagus | ESCC | 1.22e-26 | 4.39e-01 | 0.116 |
2332 | FMR1 | P11T-E | Human | Esophagus | ESCC | 2.25e-05 | 1.61e-01 | 0.1426 |
2332 | FMR1 | P12T-E | Human | Esophagus | ESCC | 5.34e-19 | 2.77e-01 | 0.1122 |
2332 | FMR1 | P15T-E | Human | Esophagus | ESCC | 4.91e-19 | 2.11e-01 | 0.1149 |
2332 | FMR1 | P16T-E | Human | Esophagus | ESCC | 2.42e-06 | 4.91e-02 | 0.1153 |
2332 | FMR1 | P19T-E | Human | Esophagus | ESCC | 1.00e-05 | 3.58e-01 | 0.1662 |
2332 | FMR1 | P20T-E | Human | Esophagus | ESCC | 7.18e-05 | 1.80e-01 | 0.1124 |
2332 | FMR1 | P21T-E | Human | Esophagus | ESCC | 3.06e-09 | 2.06e-01 | 0.1617 |
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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0002181111 | Esophagus | ESCC | cytoplasmic translation | 135/8552 | 148/18723 | 4.17e-32 | 2.65e-29 | 135 |
GO:0000375111 | Esophagus | ESCC | RNA splicing, via transesterification reactions | 248/8552 | 324/18723 | 3.05e-30 | 1.49e-27 | 248 |
GO:0000377111 | Esophagus | ESCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:0000398111 | Esophagus | ESCC | mRNA splicing, via spliceosome | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:0016032111 | Esophagus | ESCC | viral process | 301/8552 | 415/18723 | 3.34e-29 | 1.32e-26 | 301 |
GO:0006403110 | Esophagus | ESCC | RNA localization | 166/8552 | 201/18723 | 1.95e-27 | 6.18e-25 | 166 |
GO:001657015 | Esophagus | ESCC | histone modification | 323/8552 | 463/18723 | 2.61e-26 | 7.88e-24 | 323 |
GO:0042176111 | Esophagus | ESCC | regulation of protein catabolic process | 280/8552 | 391/18723 | 8.65e-26 | 2.39e-23 | 280 |
GO:0009896111 | Esophagus | ESCC | positive regulation of catabolic process | 332/8552 | 492/18723 | 4.36e-23 | 9.22e-21 | 332 |
GO:0031331111 | Esophagus | ESCC | positive regulation of cellular catabolic process | 292/8552 | 427/18723 | 8.67e-22 | 1.53e-19 | 292 |
GO:1903311110 | Esophagus | ESCC | regulation of mRNA metabolic process | 210/8552 | 288/18723 | 3.25e-21 | 5.56e-19 | 210 |
GO:0006401110 | Esophagus | ESCC | RNA catabolic process | 204/8552 | 278/18723 | 3.39e-21 | 5.66e-19 | 204 |
GO:0019058111 | Esophagus | ESCC | viral life cycle | 226/8552 | 317/18723 | 1.17e-20 | 1.76e-18 | 226 |
GO:005123617 | Esophagus | ESCC | establishment of RNA localization | 134/8552 | 166/18723 | 1.23e-20 | 1.81e-18 | 134 |
GO:005102815 | Esophagus | ESCC | mRNA transport | 110/8552 | 130/18723 | 2.76e-20 | 3.80e-18 | 110 |
GO:1903362111 | Esophagus | ESCC | regulation of cellular protein catabolic process | 188/8552 | 255/18723 | 5.12e-20 | 6.62e-18 | 188 |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:005065717 | Esophagus | ESCC | nucleic acid transport | 131/8552 | 163/18723 | 6.94e-20 | 8.46e-18 | 131 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 |
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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 |
FMR1 | SNV | Missense_Mutation | c.694C>G | p.Leu232Val | p.L232V | Q06787 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
FMR1 | SNV | Missense_Mutation | c.1666N>T | p.His556Tyr | p.H556Y | Q06787 | protein_coding | tolerated_low_confidence(0.28) | benign(0.26) | TCGA-LP-A4AV-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
FMR1 | SNV | Missense_Mutation | c.1848G>T | p.Glu616Asp | p.E616D | Q06787 | protein_coding | tolerated_low_confidence(0.42) | benign(0.009) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD | |
FMR1 | SNV | Missense_Mutation | c.1292N>A | p.Arg431His | p.R431H | Q06787 | protein_coding | tolerated(0.08) | benign(0.394) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
FMR1 | SNV | Missense_Mutation | novel | c.23N>C | p.Val8Ala | p.V8A | Q06787 | protein_coding | deleterious(0) | possibly_damaging(0.743) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
FMR1 | SNV | Missense_Mutation | c.362N>T | p.Ala121Val | p.A121V | Q06787 | protein_coding | tolerated(1) | benign(0.013) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
FMR1 | SNV | Missense_Mutation | c.1453N>A | p.Gly485Ser | p.G485S | Q06787 | protein_coding | deleterious(0.02) | possibly_damaging(0.713) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
FMR1 | SNV | Missense_Mutation | c.688N>T | p.Met230Leu | p.M230L | Q06787 | protein_coding | tolerated(0.06) | possibly_damaging(0.645) | TCGA-CM-6167-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
FMR1 | SNV | Missense_Mutation | c.91G>A | p.Ala31Thr | p.A31T | Q06787 | protein_coding | tolerated(0.22) | benign(0.011) | TCGA-CM-6169-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Ancillary | leucovorin | SD | |
FMR1 | SNV | Missense_Mutation | rs372019441 | c.1673N>A | p.Arg558Gln | p.R558Q | Q06787 | protein_coding | tolerated_low_confidence(0.32) | possibly_damaging(0.595) | TCGA-G4-6304-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | 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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