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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 CD300A |
 Gene summary |
| Gene information | Gene symbol | CD300A | Gene ID | 11314 |
| Gene name | CD300a molecule | |
| Synonyms | CLM-8|CMRF-35-H9|CMRF-35H|CMRF35-H|CMRF35-H9|CMRF35H|CMRF35H9|IGSF12|IRC1|IRC1/IRC2|IRC2|IRp60 | |
| Cytomap | 17q25.1 | |
| Type of gene | protein-coding | |
| Description | CMRF35-like molecule 8CD300 antigen-like family member ACD300a antigenCMRF35H leukocyte immunoglobulin-like receptorNK inhibitory receptorimmunoglobulin superfamily member 12inhibitory receptor protein 60leukocyte membrane antigen | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UGN4 | |
| Context | PubMed: CD300A [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 |
| CD300A | GO:0032516 | positive regulation of phosphoprotein phosphatase activity | 16339535 |
| CD300A | GO:0033007 | negative regulation of mast cell activation involved in immune response | 16339535 |
| CD300A | GO:0043305 | negative regulation of mast cell degranulation | 16339535 |
| CD300A | GO:0043407 | negative regulation of MAP kinase activity | 16254138 |
| CD300A | GO:0048147 | negative regulation of fibroblast proliferation | 16254138 |
| CD300A | GO:0050856 | regulation of T cell receptor signaling pathway | 22046970 |
| CD300A | GO:0050859 | negative regulation of B cell receptor signaling pathway | 21482706 |
| CD300A | GO:0051134 | negative regulation of NK T cell activation | 10540326 |
| CD300A | GO:1902564 | negative regulation of neutrophil activation | 17588661 |
| CD300A | GO:1902567 | negative regulation of eosinophil activation | 16254138 |
| CD300A | GO:1902569 | negative regulation of activation of Janus kinase activity | 16254138 |
| CD300A | GO:2000417 | negative regulation of eosinophil migration | 16254138 |
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Exon skipping events across known transcript of Ensembl for CD300A 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 CD300A |
| 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 CD300A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_155794 | 17 | 72462814:72462882:72469674:72470013:72470670:72470824 | 72469674:72470013 | ENSG00000167851.9 | ENST00000582319.1 |
| exon_skip_155795 | 17 | 72462814:72462882:72470670:72470824:72473574:72473669 | 72470670:72470824 | ENSG00000167851.9 | ENST00000392625.3,ENST00000310828.5 |
| exon_skip_155798 | 17 | 72463000:72463132:72466084:72466381:72469674:72470013 | 72466084:72466381 | ENSG00000167851.9 | ENST00000577511.1 |
| exon_skip_155799 | 17 | 72470670:72470824:72473574:72473669:72477427:72477465 | 72473574:72473669 | ENSG00000167851.9 | ENST00000392625.3,ENST00000577511.1,ENST00000582319.1,ENST00000310828.5,ENST00000360141.3 |
| exon_skip_155803 | 17 | 72473574:72473669:72477427:72477465:72480139:72480306 | 72477427:72477465 | ENSG00000167851.9 | ENST00000392625.3 |
| exon_skip_155805 | 17 | 72473574:72473669:72477427:72477972:72480139:72480306 | 72477427:72477972 | ENSG00000167851.9 | ENST00000582319.1 |
| exon_skip_155808 | 17 | 72477427:72477465:72477864:72477972:72480139:72480306 | 72477864:72477972 | ENSG00000167851.9 | ENST00000577511.1,ENST00000361933.3,ENST00000310828.5,ENST00000360141.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CD300A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_155794 | 17 | 72462814:72462882:72469674:72470013:72470670:72470824 | 72469674:72470013 | ENSG00000167851.9 | ENST00000582319.1 |
| exon_skip_155795 | 17 | 72462814:72462882:72470670:72470824:72473574:72473669 | 72470670:72470824 | ENSG00000167851.9 | ENST00000392625.3,ENST00000310828.5 |
| exon_skip_155798 | 17 | 72463000:72463132:72466084:72466381:72469674:72470013 | 72466084:72466381 | ENSG00000167851.9 | ENST00000577511.1 |
| exon_skip_155799 | 17 | 72470670:72470824:72473574:72473669:72477427:72477465 | 72473574:72473669 | ENSG00000167851.9 | ENST00000360141.3,ENST00000392625.3,ENST00000310828.5,ENST00000582319.1,ENST00000577511.1 |
| exon_skip_155803 | 17 | 72473574:72473669:72477427:72477465:72480139:72480306 | 72477427:72477465 | ENSG00000167851.9 | ENST00000392625.3 |
| exon_skip_155805 | 17 | 72473574:72473669:72477427:72477972:72480139:72480306 | 72477427:72477972 | ENSG00000167851.9 | ENST00000582319.1 |
| exon_skip_155808 | 17 | 72477427:72477465:72477864:72477972:72480139:72480306 | 72477864:72477972 | ENSG00000167851.9 | ENST00000360141.3,ENST00000361933.3,ENST00000310828.5,ENST00000577511.1 |
| 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 CD300A |
| 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 |
| ENST00000360141 | 72473574 | 72473669 | Frame-shift |
| ENST00000360141 | 72477864 | 72477972 | 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 |
| ENST00000360141 | 72473574 | 72473669 | Frame-shift |
| ENST00000360141 | 72477864 | 72477972 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CD300A |
| 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 |
| ENST00000360141 | 1873 | 299 | 72477864 | 72477972 | 955 | 1062 | 222 | 258 |
| 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 |
| ENST00000360141 | 1873 | 299 | 72477864 | 72477972 | 955 | 1062 | 222 | 258 |
| 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 |
| Q9UGN4 | 222 | 258 | 223 | 258 | Alternative sequence | ID=VSP_041246;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| Q9UGN4 | 222 | 258 | 18 | 299 | Chain | ID=PRO_0000014682;Note=CMRF35-like molecule 8 |
| Q9UGN4 | 222 | 258 | 202 | 299 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9UGN4 | 222 | 258 | 223 | 258 | Alternative sequence | ID=VSP_041246;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| Q9UGN4 | 222 | 258 | 18 | 299 | Chain | ID=PRO_0000014682;Note=CMRF35-like molecule 8 |
| Q9UGN4 | 222 | 258 | 202 | 299 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CD300A |
| - 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. |
CD300A_PAAD_exon_skip_155805_psi_boxplot.png |
| - 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_155794 | 72469675 | 72470013 | 72469709 | 72469709 | Frame_Shift_Del | G | - | p.A25fs |
| BRCA | TCGA-D8-A27H-01 | exon_skip_155794 | 72469675 | 72470013 | 72469794 | 72469801 | Frame_Shift_Del | CAGATTTT | - | p.Q54fs |
| GBM | TCGA-12-0821-01 | exon_skip_155794 | 72469675 | 72470013 | 72469708 | 72469709 | Frame_Shift_Ins | - | G | p.A25fs |
| KIRP | TCGA-B3-4103-01 | exon_skip_155794 | 72469675 | 72470013 | 72469708 | 72469709 | Frame_Shift_Ins | - | G | p.A25fs |
| KIRP | TCGA-B3-4104-01 | exon_skip_155794 | 72469675 | 72470013 | 72469708 | 72469709 | Frame_Shift_Ins | - | G | p.A25fs |
| SKCM | TCGA-3N-A9WC-06 | exon_skip_155794 | 72469675 | 72470013 | 72469692 | 72469692 | Nonsense_Mutation | A | T | p.K20* |
| LUAD | TCGA-55-8302-01 | exon_skip_155794 | 72469675 | 72470013 | 72469995 | 72469995 | Nonsense_Mutation | G | T | p.E121* |
| UCS | TCGA-N6-A4V9-01 | exon_skip_155799 | 72473575 | 72473669 | 72473654 | 72473654 | Nonsense_Mutation | C | T | p.Q205* |
| UCS | TCGA-N6-A4V9-01 | exon_skip_155799 | 72473575 | 72473669 | 72473654 | 72473654 | Nonsense_Mutation | C | T | p.Q205X |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_155799 | 72473575 | 72473669 | 72473661 | 72473661 | Nonsense_Mutation | G | A | p.W207* |
| PAAD | TCGA-IB-7651-01 | exon_skip_155805 | 72477428 | 72477972 | 72477915 | 72477915 | Nonsense_Mutation | G | A | p.W239* |
| PAAD | TCGA-IB-7651-01 | exon_skip_155805 | 72477428 | 72477972 | 72477915 | 72477915 | Nonsense_Mutation | G | A | p.W239X |
| PAAD | TCGA-IB-7651-01 | exon_skip_155808 | 72477865 | 72477972 | 72477915 | 72477915 | Nonsense_Mutation | G | A | p.W239* |
| PAAD | TCGA-IB-7651-01 | exon_skip_155808 | 72477865 | 72477972 | 72477915 | 72477915 | Nonsense_Mutation | G | A | p.W239X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_155805 | |
| Skipped exon start: 72477428 | |
| Skipped exon end: 72477972 | |
| Mutation start: 72477915 | |
| Mutation end: 72477915 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.W239X | |
| Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_155808 | |
| Skipped exon start: 72477865 | |
| Skipped exon end: 72477972 | |
| Mutation start: 72477915 | |
| Mutation end: 72477915 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.W239X | |
| Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_155805 | |
| Skipped exon start: 72477428 | |
| Skipped exon end: 72477972 | |
| Mutation start: 72477915 | |
| Mutation end: 72477915 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.W239* | |
| Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_155808 | |
| Skipped exon start: 72477865 | |
| Skipped exon end: 72477972 | |
| Mutation start: 72477915 | |
| Mutation end: 72477915 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.W239* | |
exon_skip_113241_PAAD_TCGA-IB-7651-01.png | |
exon_skip_115380_PAAD_TCGA-IB-7651-01.png | |
exon_skip_124564_PAAD_TCGA-IB-7651-01.png | |
exon_skip_135806_PAAD_TCGA-IB-7651-01.png | |
exon_skip_139341_PAAD_TCGA-IB-7651-01.png | |
exon_skip_153733_PAAD_TCGA-IB-7651-01.png | |
exon_skip_155805_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18053_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18056_PAAD_TCGA-IB-7651-01.png | |
exon_skip_23067_PAAD_TCGA-IB-7651-01.png | |
exon_skip_287059_PAAD_TCGA-IB-7651-01.png | |
exon_skip_294631_PAAD_TCGA-IB-7651-01.png | |
exon_skip_298512_PAAD_TCGA-IB-7651-01.png | |
exon_skip_306900_PAAD_TCGA-IB-7651-01.png | |
exon_skip_307723_PAAD_TCGA-IB-7651-01.png | |
exon_skip_315960_PAAD_TCGA-IB-7651-01.png | |
exon_skip_324675_PAAD_TCGA-IB-7651-01.png | |
exon_skip_330351_PAAD_TCGA-IB-7651-01.png | |
exon_skip_334330_PAAD_TCGA-IB-7651-01.png | |
exon_skip_341784_PAAD_TCGA-IB-7651-01.png | |
exon_skip_343314_PAAD_TCGA-IB-7651-01.png | |
exon_skip_348329_PAAD_TCGA-IB-7651-01.png | |
exon_skip_354232_PAAD_TCGA-IB-7651-01.png | |
exon_skip_370626_PAAD_TCGA-IB-7651-01.png | |
exon_skip_377740_PAAD_TCGA-IB-7651-01.png | |
exon_skip_385032_PAAD_TCGA-IB-7651-01.png | |
exon_skip_390031_PAAD_TCGA-IB-7651-01.png | |
exon_skip_422548_PAAD_TCGA-IB-7651-01.png | |
exon_skip_424536_PAAD_TCGA-IB-7651-01.png | |
exon_skip_431753_PAAD_TCGA-IB-7651-01.png | |
exon_skip_432982_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435489_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435729_PAAD_TCGA-IB-7651-01.png | |
exon_skip_441705_PAAD_TCGA-IB-7651-01.png | |
exon_skip_448879_PAAD_TCGA-IB-7651-01.png | |
exon_skip_468347_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494000_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494029_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499410_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499695_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499697_PAAD_TCGA-IB-7651-01.png | |
exon_skip_79905_PAAD_TCGA-IB-7651-01.png | |
exon_skip_80096_PAAD_TCGA-IB-7651-01.png | |
exon_skip_95924_PAAD_TCGA-IB-7651-01.png | |
| - 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 |
| CAL78_BONE | 72469675 | 72470013 | 72469802 | 72469802 | Frame_Shift_Del | C | - | p.F56fs |
| JHUEM7_ENDOMETRIUM | 72469675 | 72470013 | 72469840 | 72469841 | Frame_Shift_Ins | - | A | p.GK69fs |
| NCIH1915_LUNG | 72469675 | 72470013 | 72469743 | 72469744 | Missense_Mutation | CC | AT | p.P37I |
| COLO783_SKIN | 72469675 | 72470013 | 72469831 | 72469831 | Missense_Mutation | G | A | p.G66E |
| SW684_SOFT_TISSUE | 72469675 | 72470013 | 72469840 | 72469840 | Missense_Mutation | G | A | p.G69E |
| G361_SKIN | 72469675 | 72470013 | 72469977 | 72469977 | Missense_Mutation | G | A | p.D115N |
| SEKI_SKIN | 72469675 | 72470013 | 72469978 | 72469978 | Missense_Mutation | A | C | p.D115A |
| HOP92_LUNG | 72469675 | 72470013 | 72469986 | 72469986 | Missense_Mutation | G | A | p.V118I |
| S117_SOFT_TISSUE | 72470671 | 72470824 | 72470718 | 72470718 | Missense_Mutation | A | G | p.T143A |
| WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72473575 | 72473669 | 72473612 | 72473612 | Missense_Mutation | C | T | p.L191F |
| MDAMB361_BREAST | 72473575 | 72473669 | 72473631 | 72473631 | Missense_Mutation | C | T | p.S197F |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 72477428 | 72477972 | 72477917 | 72477917 | Missense_Mutation | C | T | p.P240L |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 72477865 | 72477972 | 72477917 | 72477917 | Missense_Mutation | C | T | p.P240L |
| NCIH513_PLEURA | 72477428 | 72477972 | 72477932 | 72477932 | Missense_Mutation | C | A | p.P245Q |
| NCIH513_PLEURA | 72477865 | 72477972 | 72477932 | 72477932 | Missense_Mutation | C | A | p.P245Q |
| NCIH650_LUNG | 72470671 | 72470824 | 72470680 | 72470680 | Nonsense_Mutation | C | G | p.S130* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CD300A |
| 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 |
| exon_skip_155798 | 17 | 72463000:72463132:72466084:72466381:72469674:72470013 | 72466084:72466381 | ENST00000577511.1 | LGG | rs4788837 | chr17:72466219 | C/T | 1.19e-05 |
| exon_skip_155798 | 17 | 72463000:72463132:72466084:72466381:72469674:72470013 | 72466084:72466381 | ENST00000577511.1 | KIRC | rs4788837 | chr17:72466219 | C/T | 1.08e-03 |
| exon_skip_155798 | 17 | 72463000:72463132:72466084:72466381:72469674:72470013 | 72466084:72466381 | ENST00000577511.1 | LUAD | rs4788837 | chr17:72466219 | C/T | 1.01e-04 |
| exon_skip_155798 | 17 | 72463000:72463132:72466084:72466381:72469674:72470013 | 72466084:72466381 | ENST00000577511.1 | STAD | rs4788837 | chr17:72466219 | C/T | 5.11e-04 |
| exon_skip_155798 | 17 | 72463000:72463132:72466084:72466381:72469674:72470013 | 72466084:72466381 | ENST00000577511.1 | THCA | rs4788837 | chr17:72466219 | C/T | 1.40e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CD300A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CD300A |
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RelatedDrugs for CD300A |
| 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 CD300A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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