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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for HRG |
 Gene summary |
| Gene information | Gene symbol | HRG | Gene ID | 3273 |
| Gene name | histidine rich glycoprotein | |
| Synonyms | HPRG|HRGP|THPH11 | |
| Cytomap | 3q27.3 | |
| Type of gene | protein-coding | |
| Description | histidine-rich glycoproteinhistidine-proline-rich glycoprotein | |
| Modification date | 20180523 | |
| UniProtAcc | P04196 | |
| Context | PubMed: HRG [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| HRG | GO:0002839 | positive regulation of immune response to tumor cell | 21215706 |
| HRG | GO:0007162 | negative regulation of cell adhesion | 14744774 |
| HRG | GO:0008285 | negative regulation of cell proliferation | 14744774 |
| HRG | GO:0010468 | regulation of gene expression | 21215706 |
| HRG | GO:0010593 | negative regulation of lamellipodium assembly | 16489009 |
| HRG | GO:0016525 | negative regulation of angiogenesis | 14744774|16436387|16489009|19903770 |
| HRG | GO:0030168 | platelet activation | 19903770 |
| HRG | GO:0030193 | regulation of blood coagulation | 6740558|21304106 |
| HRG | GO:0030308 | negative regulation of cell growth | 21215706 |
| HRG | GO:0032956 | regulation of actin cytoskeleton organization | 16489009 |
| HRG | GO:0033629 | negative regulation of cell adhesion mediated by integrin | 16489009 |
| HRG | GO:0043065 | positive regulation of apoptotic process | 14744774 |
| HRG | GO:0043254 | regulation of protein complex assembly | 16489009 |
| HRG | GO:0050730 | regulation of peptidyl-tyrosine phosphorylation | 16489009 |
| HRG | GO:0050832 | defense response to fungus | 18797515 |
| HRG | GO:0051715 | cytolysis in other organism | 18797515 |
| HRG | GO:0051894 | positive regulation of focal adhesion assembly | 14744774|16436387 |
| HRG | GO:0061844 | antimicrobial humoral immune response mediated by antimicrobial peptide | 18797515 |
| HRG | GO:1900747 | negative regulation of vascular endothelial growth factor signaling pathway | 16489009 |
| HRG | GO:2000504 | positive regulation of blood vessel remodeling | 21215706 |
| HRG | GO:2001027 | negative regulation of endothelial cell chemotaxis | 14744774|16436387|16489009 |
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Exon skipping events across known transcript of Ensembl for HRG from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for HRG |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for HRG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_380159 | 3 | 186383740:186384003:186386723:186386840:186387726:186387817 | 186386723:186386840 | ENSG00000113905.4 | ENST00000232003.4 |
| exon_skip_380165 | 3 | 186390579:186390656:186392877:186392979:186394835:186396020 | 186392877:186392979 | ENSG00000113905.4 | ENST00000232003.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HRG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_380165 | 3 | 186390579:186390656:186392877:186392979:186394835:186396020 | 186392877:186392979 | ENSG00000113905.4 | ENST00000232003.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for HRG |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000232003 | 186386723 | 186386840 | In-frame |
| ENST00000232003 | 186392877 | 186392979 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000232003 | 186392877 | 186392979 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HRG |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000232003 | 2032 | 525 | 186386723 | 186386840 | 264 | 380 | 61 | 100 |
| ENST00000232003 | 2032 | 525 | 186392877 | 186392979 | 720 | 821 | 213 | 247 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000232003 | 2032 | 525 | 186392877 | 186392979 | 720 | 821 | 213 | 247 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P04196 | 61 | 100 | 19 | 525 | Chain | ID=PRO_0000006709;Note=Histidine-rich glycoprotein |
| P04196 | 61 | 100 | 24 | 504 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P04196 | 61 | 100 | 78 | 89 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P04196 | 61 | 100 | 19 | 136 | Domain | Note=Cystatin 1 |
| P04196 | 61 | 100 | 63 | 63 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19285951;Dbxref=PMID:16335952,PMID:19285951 |
| P04196 | 61 | 100 | 79 | 79 | Natural variant | ID=VAR_048856;Note=S->L;Dbxref=dbSNP:rs4516605 |
| P04196 | 61 | 100 | 41 | 84 | Region | Note=Interaction with ATP5F1A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285951;Dbxref=PMID:19285951 |
| P04196 | 213 | 247 | 19 | 525 | Chain | ID=PRO_0000006709;Note=Histidine-rich glycoprotein |
| P04196 | 213 | 247 | 24 | 504 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P04196 | 213 | 247 | 203 | 417 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P04196 | 213 | 247 | 218 | 241 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P04196 | 213 | 247 | 137 | 254 | Domain | Note=Cystatin 2 |
| P04196 | 213 | 247 | 241 | 241 | Natural variant | ID=VAR_063001;Note=In THPH11%3B HRG Tokushima 2%3B results in increased intracellular degradation and reduced protein secretion. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11057869;Dbxref=dbSNP:rs2276804,PMID:11057869 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P04196 | 213 | 247 | 19 | 525 | Chain | ID=PRO_0000006709;Note=Histidine-rich glycoprotein |
| P04196 | 213 | 247 | 24 | 504 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P04196 | 213 | 247 | 203 | 417 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P04196 | 213 | 247 | 218 | 241 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P04196 | 213 | 247 | 137 | 254 | Domain | Note=Cystatin 2 |
| P04196 | 213 | 247 | 241 | 241 | Natural variant | ID=VAR_063001;Note=In THPH11%3B HRG Tokushima 2%3B results in increased intracellular degradation and reduced protein secretion. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11057869;Dbxref=dbSNP:rs2276804,PMID:11057869 |
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SNVs in the skipped exons for HRG |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_380165 | 186392878 | 186392979 | 186392941 | 186392941 | Frame_Shift_Del | A | - | p.K235fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_380165 | 186392878 | 186392979 | 186392941 | 186392941 | Frame_Shift_Del | A | - | p.P234fs |
| LIHC | TCGA-2Y-A9GW-01 | exon_skip_380159 | 186386724 | 186386840 | 186386775 | 186386776 | Frame_Shift_Ins | - | C | p.S79fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HOP92_LUNG | 186386724 | 186386840 | 186386760 | 186386760 | Missense_Mutation | C | A | p.Q74K |
| TEN_ENDOMETRIUM | 186386724 | 186386840 | 186386802 | 186386802 | Missense_Mutation | G | A | p.D88N |
| 8505C_THYROID | 186386724 | 186386840 | 186386808 | 186386808 | Missense_Mutation | G | A | p.E90K |
| NCIH2804_PLEURA | 186386724 | 186386840 | 186386811 | 186386811 | Missense_Mutation | C | T | p.P91S |
| M980513_SKIN | 186392878 | 186392979 | 186392885 | 186392885 | Missense_Mutation | G | T | p.G216V |
| KM12_LARGE_INTESTINE | 186392878 | 186392979 | 186392919 | 186392919 | Missense_Mutation | A | C | p.E227D |
| OC316_OVARY | 186392878 | 186392979 | 186392960 | 186392960 | Missense_Mutation | G | A | p.C241Y |
| OC314_OVARY | 186392878 | 186392979 | 186392960 | 186392960 | Missense_Mutation | G | A | p.C241Y |
| PLCPRF5_LIVER | 186392878 | 186392979 | 186392968 | 186392968 | Missense_Mutation | T | C | p.F244L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HRG |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HRG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HRG |
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RelatedDrugs for HRG |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for HRG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HRG | C2751090 | Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency | 2 | ORPHANET;UNIPROT |
| HRG | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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