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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 LTF |
 Gene summary |
| Gene information | Gene symbol | LTF | Gene ID | 4057 |
| Gene name | lactotransferrin | |
| Synonyms | GIG12|HEL110|HLF2|LF | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | lactotransferrinepididymis luminal protein 110growth-inhibiting protein 12kaliocin-1lactoferricinlactoferroxinneutrophil lactoferrintalalactoferrin | |
| Modification date | 20180527 | |
| UniProtAcc | P02788 | |
| Context | PubMed: LTF [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 |
| LTF | GO:0001817 | regulation of cytokine production | 20345905 |
| LTF | GO:0002227 | innate immune response in mucosa | 12037568 |
| LTF | GO:0019731 | antibacterial humoral response | 1599934|18714013 |
| LTF | GO:0019732 | antifungal humoral response | 11083624 |
| LTF | GO:0031640 | killing of cells of other organism | 9727055 |
| LTF | GO:0031665 | negative regulation of lipopolysaccharide-mediated signaling pathway | 20345905 |
| LTF | GO:0032680 | regulation of tumor necrosis factor production | 20345905 |
| LTF | GO:0033690 | positive regulation of osteoblast proliferation | 15166119 |
| LTF | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 20345905 |
| LTF | GO:0045669 | positive regulation of osteoblast differentiation | 15166119 |
| LTF | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 20345905 |
| LTF | GO:0060349 | bone morphogenesis | 15166119 |
| LTF | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 20345905 |
| LTF | GO:1900229 | negative regulation of single-species biofilm formation in or on host organism | 12037568 |
| LTF | GO:1902732 | positive regulation of chondrocyte proliferation | 15166119 |
| LTF | GO:2000117 | negative regulation of cysteine-type endopeptidase activity | 12788072 |
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Exon skipping events across known transcript of Ensembl for LTF 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 LTF |
| 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 LTF |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382838 | 3 | 46477691:46477720:46479430:46479620:46480786:46480971 | 46479430:46479620 | ENSG00000012223.8 | ENST00000231751.4,ENST00000417439.1,ENST00000443496.1,ENST00000426532.2 |
| exon_skip_382843 | 3 | 46484931:46485073:46486771:46486927:46487930:46487984 | 46486771:46486927 | ENSG00000012223.8 | ENST00000231751.4,ENST00000417439.1,ENST00000443496.1,ENST00000426532.2 |
| exon_skip_382848 | 3 | 46490359:46490508:46491343:46491518:46491984:46492163 | 46491343:46491518 | ENSG00000012223.8 | ENST00000231751.4,ENST00000417439.1,ENST00000443496.1,ENST00000426532.2 |
| exon_skip_382860 | 3 | 46491345:46491518:46491984:46492163:46495794:46495850 | 46491984:46492163 | ENSG00000012223.8 | ENST00000231751.4,ENST00000417439.1,ENST00000443496.1,ENST00000426532.2 |
| exon_skip_382861 | 3 | 46496918:46496932:46497285:46497468:46497779:46497888 | 46497285:46497468 | ENSG00000012223.8 | ENST00000231751.4,ENST00000417439.1,ENST00000443496.1,ENST00000426532.2,ENST00000431944.1 |
| exon_skip_382863 | 3 | 46497779:46497888:46501145:46501309:46506314:46506358 | 46501145:46501309 | ENSG00000012223.8 | ENST00000417439.1 |
| exon_skip_382864 | 3 | 46501146:46501309:46502054:46502087:46506314:46506358 | 46502054:46502087 | ENSG00000012223.8 | ENST00000431944.1 |
| exon_skip_382866 | 3 | 46501146:46501309:46509741:46509809:46526475:46526713 | 46509741:46509809 | ENSG00000012223.8 | ENST00000498301.1 |
| exon_skip_382867 | 3 | 46509741:46509809:46510936:46511085:46511850:46511956 | 46510936:46511085 | ENSG00000012223.8 | ENST00000443496.1 |
| exon_skip_382871 | 3 | 46510936:46511085:46511850:46511956:46526475:46526713 | 46511850:46511956 | ENSG00000012223.8 | ENST00000443496.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LTF |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382838 | 3 | 46477691:46477720:46479430:46479620:46480786:46480971 | 46479430:46479620 | ENSG00000012223.8 | ENST00000231751.4,ENST00000426532.2,ENST00000417439.1,ENST00000443496.1 |
| exon_skip_382843 | 3 | 46484931:46485073:46486771:46486927:46487930:46487984 | 46486771:46486927 | ENSG00000012223.8 | ENST00000231751.4,ENST00000426532.2,ENST00000417439.1,ENST00000443496.1 |
| exon_skip_382848 | 3 | 46490359:46490508:46491343:46491518:46491984:46492163 | 46491343:46491518 | ENSG00000012223.8 | ENST00000231751.4,ENST00000426532.2,ENST00000417439.1,ENST00000443496.1 |
| exon_skip_382860 | 3 | 46491345:46491518:46491984:46492163:46495794:46495850 | 46491984:46492163 | ENSG00000012223.8 | ENST00000231751.4,ENST00000426532.2,ENST00000417439.1,ENST00000443496.1 |
| exon_skip_382861 | 3 | 46496918:46496932:46497285:46497468:46497779:46497888 | 46497285:46497468 | ENSG00000012223.8 | ENST00000231751.4,ENST00000426532.2,ENST00000417439.1,ENST00000443496.1,ENST00000431944.1 |
| exon_skip_382863 | 3 | 46497779:46497888:46501145:46501309:46506314:46506358 | 46501145:46501309 | ENSG00000012223.8 | ENST00000417439.1 |
| exon_skip_382864 | 3 | 46501146:46501309:46502054:46502087:46506314:46506358 | 46502054:46502087 | ENSG00000012223.8 | ENST00000431944.1 |
| exon_skip_382866 | 3 | 46501146:46501309:46509741:46509809:46526475:46526713 | 46509741:46509809 | ENSG00000012223.8 | ENST00000498301.1 |
| exon_skip_382867 | 3 | 46509741:46509809:46510936:46511085:46511850:46511956 | 46510936:46511085 | ENSG00000012223.8 | ENST00000443496.1 |
| exon_skip_382871 | 3 | 46510936:46511085:46511850:46511956:46526475:46526713 | 46511850:46511956 | ENSG00000012223.8 | ENST00000443496.1 |
| 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 LTF |
| 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 |
| ENST00000231751 | 46479430 | 46479620 | Frame-shift |
| ENST00000231751 | 46491343 | 46491518 | Frame-shift |
| ENST00000231751 | 46491984 | 46492163 | Frame-shift |
| ENST00000231751 | 46486771 | 46486927 | In-frame |
| ENST00000231751 | 46497285 | 46497468 | 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 |
| ENST00000231751 | 46479430 | 46479620 | Frame-shift |
| ENST00000231751 | 46491343 | 46491518 | Frame-shift |
| ENST00000231751 | 46491984 | 46492163 | Frame-shift |
| ENST00000231751 | 46486771 | 46486927 | In-frame |
| ENST00000231751 | 46497285 | 46497468 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LTF |
| 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 |
| ENST00000231751 | 2996 | 710 | 46497285 | 46497468 | 613 | 795 | 105 | 166 |
| ENST00000231751 | 2996 | 710 | 46486771 | 46486927 | 1654 | 1809 | 452 | 504 |
| 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 |
| ENST00000231751 | 2996 | 710 | 46497285 | 46497468 | 613 | 795 | 105 | 166 |
| ENST00000231751 | 2996 | 710 | 46486771 | 46486927 | 1654 | 1809 | 452 | 504 |
| 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 |
| 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 |
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SNVs in the skipped exons for LTF |
| - 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-A1EG-01 | exon_skip_382838 | 46479431 | 46479620 | 46479503 | 46479503 | Frame_Shift_Del | T | - | p.T677fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_382838 | 46479431 | 46479620 | 46479553 | 46479553 | Frame_Shift_Del | T | - | p.N659fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_382838 | 46479431 | 46479620 | 46479553 | 46479553 | Frame_Shift_Del | T | - | p.N659fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_382838 | 46479431 | 46479620 | 46479609 | 46479609 | Frame_Shift_Del | C | - | p.G640fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_382863 | 46501146 | 46501309 | 46501170 | 46501170 | Frame_Shift_Del | G | - | p.P61fs |
| SKCM | TCGA-W3-AA1W-06 | exon_skip_382838 | 46479431 | 46479620 | 46479530 | 46479530 | Nonsense_Mutation | C | A | p.E667* |
| SKCM | TCGA-BF-AAP4-01 | exon_skip_382860 | 46491985 | 46492163 | 46492006 | 46492006 | Nonsense_Mutation | C | T | p.W287* |
| LUAD | TCGA-78-8662-01 | exon_skip_382861 | 46497286 | 46497468 | 46497383 | 46497383 | Nonsense_Mutation | G | T | p.C134* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_382861 | 46497286 | 46497468 | 46497452 | 46497452 | Nonsense_Mutation | A | C | p.Y111* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_382861 | 46497286 | 46497468 | 46497452 | 46497452 | Nonsense_Mutation | A | C | p.Y111X |
| HNSC | TCGA-F7-7848-01 | exon_skip_382838 | 46479431 | 46479620 | 46479621 | 46479621 | Splice_Site | C | A | p.A637_splice |
| - 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 |
| HEC6_ENDOMETRIUM | 46486772 | 46486927 | 46486864 | 46486864 | Frame_Shift_Del | C | - | p.G474fs |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46479431 | 46479620 | 46479443 | 46479443 | Missense_Mutation | A | T | p.C696S |
| PEDS015T_SOFT_TISSUE | 46479431 | 46479620 | 46479550 | 46479550 | Missense_Mutation | A | C | p.L660R |
| CORL279_LUNG | 46479431 | 46479620 | 46479592 | 46479592 | Missense_Mutation | C | T | p.C646Y |
| HEC59_ENDOMETRIUM | 46491344 | 46491518 | 46491412 | 46491412 | Missense_Mutation | G | T | p.P330H |
| HEC1_ENDOMETRIUM | 46491985 | 46492163 | 46492037 | 46492037 | Missense_Mutation | C | T | p.R277Q |
| DV90_LUNG | 46491985 | 46492163 | 46492065 | 46492065 | Missense_Mutation | G | A | p.R268W |
| AN3CA_ENDOMETRIUM | 46501146 | 46501309 | 46501208 | 46501208 | Missense_Mutation | G | A | p.R49C |
| LIM1215_LARGE_INTESTINE | 46501146 | 46501309 | 46501208 | 46501208 | Missense_Mutation | G | A | p.R49C |
| HEC6_ENDOMETRIUM | 46501146 | 46501309 | 46501259 | 46501259 | Missense_Mutation | G | T | p.Q32K |
| CAMA1_BREAST | 46501146 | 46501309 | 46501265 | 46501265 | Missense_Mutation | C | T | p.V30I |
| OVK18_OVARY | 46501146 | 46501309 | 46501272 | 46501272 | Nonsense_Mutation | C | T | p.W27* |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46501146 | 46501309 | 46501147 | 46501147 | Splice_Site | G | A | p.A69V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LTF |
| 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 LTF |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LTF |
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RelatedDrugs for LTF |
| 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 |
| P02788 | DB08439 | Parecoxib | Lactotransferrin | small molecule | approved | |
| P02788 | DB04743 | Nimesulide | Lactotransferrin | small molecule | approved|investigational|withdrawn |
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RelatedDiseases for LTF |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LTF | C0029456 | Osteoporosis | 2 | CTD_human |
| LTF | C0006849 | Oral candidiasis | 1 | CTD_human |
| LTF | C0009324 | Ulcerative Colitis | 1 | CTD_human |
| LTF | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| LTF | C0011991 | Diarrhea | 1 | CTD_human |
| LTF | C0014175 | Endometriosis | 1 | CTD_human |
| LTF | C0017181 | Gastrointestinal Hemorrhage | 1 | CTD_human |
| LTF | C0020538 | Hypertensive disease | 1 | CTD_human |
| LTF | C0020649 | Hypotension | 1 | CTD_human |
| LTF | C0021368 | Inflammation | 1 | CTD_human |
| LTF | C0022408 | Arthropathy | 1 | CTD_human |
| LTF | C0023903 | Liver neoplasms | 1 | CTD_human |
| LTF | C0151526 | Premature Birth | 1 | CTD_human |
| LTF | C0392622 | Toxic effect of carbon tetrachloride | 1 | CTD_human |
| LTF | C0520459 | Necrotizing Enterocolitis | 1 | CTD_human |
| LTF | C0700345 | Candidiasis, Vulvovaginal | 1 | CTD_human |
| LTF | C1262477 | Weight decreased | 1 | CTD_human |
| LTF | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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