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Gene: HAPLN3 |
Gene summary for HAPLN3 |
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Gene information | Species | Human | Gene symbol | HAPLN3 | Gene ID | 145864 |
Gene name | hyaluronan and proteoglycan link protein 3 | |
Gene Alias | EXLD1 | |
Cytomap | 15q26.1 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | A8K7T8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
145864 | HAPLN3 | LZE24T | Human | Esophagus | ESCC | 1.50e-02 | -3.22e-02 | 0.0596 |
145864 | HAPLN3 | P2T-E | Human | Esophagus | ESCC | 5.37e-22 | 2.83e-01 | 0.1177 |
145864 | HAPLN3 | P4T-E | Human | Esophagus | ESCC | 2.36e-09 | 1.45e-01 | 0.1323 |
145864 | HAPLN3 | P5T-E | Human | Esophagus | ESCC | 3.95e-07 | 7.57e-02 | 0.1327 |
145864 | HAPLN3 | P8T-E | Human | Esophagus | ESCC | 3.44e-06 | 1.96e-01 | 0.0889 |
145864 | HAPLN3 | P9T-E | Human | Esophagus | ESCC | 4.51e-07 | 1.99e-01 | 0.1131 |
145864 | HAPLN3 | P11T-E | Human | Esophagus | ESCC | 1.59e-02 | 1.85e-01 | 0.1426 |
145864 | HAPLN3 | P15T-E | Human | Esophagus | ESCC | 3.73e-04 | 1.27e-01 | 0.1149 |
145864 | HAPLN3 | P16T-E | Human | Esophagus | ESCC | 7.68e-09 | 1.01e-01 | 0.1153 |
145864 | HAPLN3 | P21T-E | Human | Esophagus | ESCC | 1.95e-03 | 6.19e-02 | 0.1617 |
145864 | HAPLN3 | P22T-E | Human | Esophagus | ESCC | 3.10e-08 | 1.95e-03 | 0.1236 |
145864 | HAPLN3 | P23T-E | Human | Esophagus | ESCC | 1.84e-06 | 1.88e-01 | 0.108 |
145864 | HAPLN3 | P24T-E | Human | Esophagus | ESCC | 2.61e-08 | 2.52e-01 | 0.1287 |
145864 | HAPLN3 | P26T-E | Human | Esophagus | ESCC | 2.44e-08 | 7.96e-02 | 0.1276 |
145864 | HAPLN3 | P27T-E | Human | Esophagus | ESCC | 2.33e-10 | 3.33e-02 | 0.1055 |
145864 | HAPLN3 | P31T-E | Human | Esophagus | ESCC | 7.40e-04 | 7.28e-02 | 0.1251 |
145864 | HAPLN3 | P32T-E | Human | Esophagus | ESCC | 3.31e-09 | 1.27e-01 | 0.1666 |
145864 | HAPLN3 | P37T-E | Human | Esophagus | ESCC | 1.31e-15 | 4.93e-01 | 0.1371 |
145864 | HAPLN3 | P39T-E | Human | Esophagus | ESCC | 1.64e-02 | -6.79e-02 | 0.0894 |
145864 | HAPLN3 | P40T-E | Human | Esophagus | ESCC | 1.60e-09 | 6.49e-01 | 0.109 |
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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 |
HAPLN3 | SNV | Missense_Mutation | rs372290878 | c.874N>T | p.Arg292Trp | p.R292W | protein_coding | deleterious(0) | benign(0.245) | TCGA-B6-A400-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
HAPLN3 | SNV | Missense_Mutation | c.347C>T | p.Pro116Leu | p.P116L | protein_coding | tolerated(0.09) | possibly_damaging(0.687) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR | ||
HAPLN3 | insertion | Nonsense_Mutation | novel | c.1000_1001insTTTTATACTTCTCAATTTAAATT | p.Glu334ValfsTer7 | p.E334Vfs*7 | protein_coding | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |||
HAPLN3 | deletion | Frame_Shift_Del | novel | c.455_461delNNNNNNN | p.Lys152ArgfsTer16 | p.K152Rfs*16 | protein_coding | TCGA-A8-A07O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | CR | ||||
HAPLN3 | insertion | Frame_Shift_Ins | novel | c.1024_1025insGACAGGGAGGCTCCCCATCTGGGGGCCCTTGTGGG | p.Thr342ArgfsTer123 | p.T342Rfs*123 | protein_coding | TCGA-A8-A07Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unspecific | Exemestane | SD | |||
HAPLN3 | SNV | Missense_Mutation | rs770255399 | c.1259N>A | p.Arg420His | p.R420H | protein_coding | deleterious(0.03) | benign(0.023) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
HAPLN3 | SNV | Missense_Mutation | rs374332821 | c.1151N>A | p.Arg384His | p.R384H | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
HAPLN3 | SNV | Missense_Mutation | rs777163714 | c.676C>T | p.Arg226Trp | p.R226W | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | |
HAPLN3 | SNV | Missense_Mutation | rs148612564 | c.614N>A | p.Arg205His | p.R205H | protein_coding | deleterious(0.04) | possibly_damaging(0.462) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
HAPLN3 | SNV | Missense_Mutation | c.1043G>A | p.Cys348Tyr | p.C348Y | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | 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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