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Gene: SEH1L |
Gene summary for SEH1L |
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Gene information | Species | Human | Gene symbol | SEH1L | Gene ID | 81929 |
Gene name | SEH1 like nucleoporin | |
Gene Alias | SEC13L | |
Cytomap | 18p11.21 | |
Gene Type | protein-coding | GO ID | GO:0000070 | UniProtAcc | Q96EE3 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
81929 | SEH1L | LZE4T | Human | Esophagus | ESCC | 9.95e-11 | 6.51e-02 | 0.0811 |
81929 | SEH1L | LZE8T | Human | Esophagus | ESCC | 9.19e-08 | 2.08e-02 | 0.067 |
81929 | SEH1L | LZE20T | Human | Esophagus | ESCC | 5.17e-04 | -1.03e-01 | 0.0662 |
81929 | SEH1L | LZE22T | Human | Esophagus | ESCC | 2.59e-05 | 1.29e-01 | 0.068 |
81929 | SEH1L | LZE24T | Human | Esophagus | ESCC | 2.03e-13 | 3.17e-01 | 0.0596 |
81929 | SEH1L | P2T-E | Human | Esophagus | ESCC | 3.64e-27 | 4.77e-01 | 0.1177 |
81929 | SEH1L | P4T-E | Human | Esophagus | ESCC | 2.92e-16 | 6.20e-01 | 0.1323 |
81929 | SEH1L | P5T-E | Human | Esophagus | ESCC | 8.01e-19 | 5.23e-01 | 0.1327 |
81929 | SEH1L | P8T-E | Human | Esophagus | ESCC | 3.47e-08 | 9.50e-02 | 0.0889 |
81929 | SEH1L | P9T-E | Human | Esophagus | ESCC | 1.26e-18 | 3.03e-01 | 0.1131 |
81929 | SEH1L | P10T-E | Human | Esophagus | ESCC | 5.64e-24 | 8.92e-02 | 0.116 |
81929 | SEH1L | P11T-E | Human | Esophagus | ESCC | 9.88e-11 | 2.81e-01 | 0.1426 |
81929 | SEH1L | P12T-E | Human | Esophagus | ESCC | 4.50e-13 | 2.51e-01 | 0.1122 |
81929 | SEH1L | P15T-E | Human | Esophagus | ESCC | 1.07e-14 | 2.79e-01 | 0.1149 |
81929 | SEH1L | P16T-E | Human | Esophagus | ESCC | 2.70e-23 | 3.42e-01 | 0.1153 |
81929 | SEH1L | P17T-E | Human | Esophagus | ESCC | 9.79e-05 | 3.51e-01 | 0.1278 |
81929 | SEH1L | P20T-E | Human | Esophagus | ESCC | 1.72e-15 | 1.93e-01 | 0.1124 |
81929 | SEH1L | P21T-E | Human | Esophagus | ESCC | 9.43e-39 | 6.32e-01 | 0.1617 |
81929 | SEH1L | P22T-E | Human | Esophagus | ESCC | 4.27e-24 | 1.09e-01 | 0.1236 |
81929 | SEH1L | P23T-E | Human | Esophagus | ESCC | 8.16e-37 | 1.02e+00 | 0.108 |
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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 |
GO:00319291 | Liver | HCC | TOR signaling | 78/7958 | 126/18723 | 8.49e-06 | 9.97e-05 | 78 |
GO:0048285 | Liver | HCC | organelle fission | 254/7958 | 488/18723 | 1.07e-05 | 1.23e-04 | 254 |
GO:0007080 | Liver | HCC | mitotic metaphase plate congression | 36/7958 | 50/18723 | 2.28e-05 | 2.41e-04 | 36 |
GO:0032006 | Liver | HCC | regulation of TOR signaling | 63/7958 | 104/18723 | 1.50e-04 | 1.20e-03 | 63 |
GO:0051310 | Liver | HCC | metaphase plate congression | 42/7958 | 65/18723 | 2.63e-04 | 1.94e-03 | 42 |
GO:19909281 | Liver | HCC | response to amino acid starvation | 33/7958 | 49/18723 | 3.86e-04 | 2.62e-03 | 33 |
GO:0000280 | Liver | HCC | nuclear division | 220/7958 | 439/18723 | 6.90e-04 | 4.25e-03 | 220 |
GO:0034629 | Liver | HCC | cellular protein-containing complex localization | 17/7958 | 22/18723 | 9.84e-04 | 5.70e-03 | 17 |
GO:0032008 | Liver | HCC | positive regulation of TOR signaling | 31/7958 | 47/18723 | 9.90e-04 | 5.71e-03 | 31 |
GO:0050000 | Liver | HCC | chromosome localization | 49/7958 | 82/18723 | 1.20e-03 | 6.68e-03 | 49 |
GO:00341981 | Liver | HCC | cellular response to amino acid starvation | 30/7958 | 46/18723 | 1.56e-03 | 8.23e-03 | 30 |
GO:0051303 | Liver | HCC | establishment of chromosome localization | 47/7958 | 80/18723 | 2.45e-03 | 1.19e-02 | 47 |
GO:0006999 | Liver | HCC | nuclear pore organization | 11/7958 | 14/18723 | 6.81e-03 | 2.73e-02 | 11 |
GO:1904263 | Liver | HCC | positive regulation of TORC1 signaling | 14/7958 | 20/18723 | 1.21e-02 | 4.41e-02 | 14 |
GO:000640318 | Oral cavity | OSCC | RNA localization | 150/7305 | 201/18723 | 6.90e-25 | 1.98e-22 | 150 |
GO:01400145 | Oral cavity | OSCC | mitotic nuclear division | 191/7305 | 287/18723 | 1.99e-21 | 3.70e-19 | 191 |
GO:00510287 | Oral cavity | OSCC | mRNA transport | 101/7305 | 130/18723 | 2.19e-19 | 3.15e-17 | 101 |
GO:005065714 | Oral cavity | OSCC | nucleic acid transport | 120/7305 | 163/18723 | 2.31e-19 | 3.18e-17 | 120 |
GO:005065814 | Oral cavity | OSCC | RNA transport | 120/7305 | 163/18723 | 2.31e-19 | 3.18e-17 | 120 |
GO:005165610 | Oral cavity | OSCC | establishment of organelle localization | 239/7305 | 390/18723 | 2.46e-19 | 3.31e-17 | 239 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05014210 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa0301321 | Esophagus | ESCC | Nucleocytoplasmic transport | 89/4205 | 108/8465 | 1.20e-12 | 2.37e-11 | 1.21e-11 | 89 |
hsa041505 | Esophagus | ESCC | mTOR signaling pathway | 98/4205 | 156/8465 | 5.81e-04 | 1.95e-03 | 9.97e-04 | 98 |
hsa0501438 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa0301331 | Esophagus | ESCC | Nucleocytoplasmic transport | 89/4205 | 108/8465 | 1.20e-12 | 2.37e-11 | 1.21e-11 | 89 |
hsa0415013 | Esophagus | ESCC | mTOR signaling pathway | 98/4205 | 156/8465 | 5.81e-04 | 1.95e-03 | 9.97e-04 | 98 |
hsa0501422 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
hsa03013 | Liver | HCC | Nucleocytoplasmic transport | 81/4020 | 108/8465 | 4.28e-09 | 6.83e-08 | 3.80e-08 | 81 |
hsa041502 | Liver | HCC | mTOR signaling pathway | 95/4020 | 156/8465 | 4.70e-04 | 1.99e-03 | 1.11e-03 | 95 |
hsa0501432 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
hsa030131 | Liver | HCC | Nucleocytoplasmic transport | 81/4020 | 108/8465 | 4.28e-09 | 6.83e-08 | 3.80e-08 | 81 |
hsa0415011 | Liver | HCC | mTOR signaling pathway | 95/4020 | 156/8465 | 4.70e-04 | 1.99e-03 | 1.11e-03 | 95 |
hsa0501428 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa030136 | Oral cavity | OSCC | Nucleocytoplasmic transport | 82/3704 | 108/8465 | 7.93e-12 | 1.33e-10 | 6.77e-11 | 82 |
hsa041504 | Oral cavity | OSCC | mTOR signaling pathway | 90/3704 | 156/8465 | 2.87e-04 | 9.15e-04 | 4.66e-04 | 90 |
hsa05014112 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa0301311 | Oral cavity | OSCC | Nucleocytoplasmic transport | 82/3704 | 108/8465 | 7.93e-12 | 1.33e-10 | 6.77e-11 | 82 |
hsa0415012 | Oral cavity | OSCC | mTOR signaling pathway | 90/3704 | 156/8465 | 2.87e-04 | 9.15e-04 | 4.66e-04 | 90 |
hsa0501445 | Oral cavity | EOLP | Amyotrophic lateral sclerosis | 93/1218 | 364/8465 | 7.07e-09 | 1.14e-07 | 6.74e-08 | 93 |
hsa030134 | Oral cavity | EOLP | Nucleocytoplasmic transport | 34/1218 | 108/8465 | 4.24e-06 | 2.91e-05 | 1.72e-05 | 34 |
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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 |
SEH1L | SNV | Missense_Mutation | c.594G>C | p.Gln198His | p.Q198H | Q96EE3 | protein_coding | tolerated(0.55) | benign(0.052) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
SEH1L | SNV | Missense_Mutation | rs767376115 | c.527N>A | p.Arg176His | p.R176H | Q96EE3 | protein_coding | deleterious(0) | benign(0.441) | TCGA-B6-A0X0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SEH1L | SNV | Missense_Mutation | novel | c.1261N>T | p.Ile421Phe | p.I421F | Q96EE3 | protein_coding | deleterious_low_confidence(0) | benign(0.006) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SEH1L | SNV | Missense_Mutation | novel | c.184C>A | p.Arg62Ser | p.R62S | Q96EE3 | protein_coding | deleterious(0) | possibly_damaging(0.822) | TCGA-AF-3913-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | xeloda | PD |
SEH1L | SNV | Missense_Mutation | c.957N>T | p.Leu319Phe | p.L319F | Q96EE3 | protein_coding | deleterious(0.03) | benign(0.233) | TCGA-AG-3892-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
SEH1L | SNV | Missense_Mutation | novel | c.674N>G | p.Ile225Ser | p.I225S | Q96EE3 | protein_coding | deleterious(0) | possibly_damaging(0.897) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SEH1L | SNV | Missense_Mutation | novel | c.674N>G | p.Ile225Ser | p.I225S | Q96EE3 | protein_coding | deleterious(0) | possibly_damaging(0.897) | TCGA-A5-A0GG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SEH1L | SNV | Missense_Mutation | novel | c.701N>A | p.Ser234Tyr | p.S234Y | Q96EE3 | protein_coding | deleterious(0.02) | probably_damaging(0.987) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
SEH1L | SNV | Missense_Mutation | novel | c.415N>T | p.Val139Leu | p.V139L | Q96EE3 | protein_coding | tolerated(0.23) | benign(0.175) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
SEH1L | SNV | Missense_Mutation | novel | c.730N>T | p.Asp244Tyr | p.D244Y | Q96EE3 | protein_coding | deleterious(0.01) | possibly_damaging(0.82) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | 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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