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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 FAM45A |
 Gene summary |
| Gene information | Gene symbol | FAM45A | Gene ID | 404636 |
| Gene name | family with sequence similarity 45 member A | |
| Synonyms | - | |
| Cytomap | 10q26.11 | |
| Type of gene | protein-coding | |
| Description | protein FAM45A | |
| Modification date | 20180519 | |
| UniProtAcc | Q8TCE6 | |
| Context | PubMed: FAM45A [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 |
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Exon skipping events across known transcript of Ensembl for FAM45A 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 FAM45A |
| 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 FAM45A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45329 | 10 | 120863628:120863709:120864275:120864534:120864822:120865007 | 120864275:120864534 | ENSG00000119979.11 | ENST00000493766.1,ENST00000497903.1 |
| exon_skip_45337 | 10 | 120863628:120863709:120867459:120867676:120871360:120871440 | 120867459:120867676 | ENSG00000119979.11 | ENST00000487888.1,ENST00000544016.1 |
| exon_skip_45338 | 10 | 120863628:120863709:120867479:120867676:120871360:120871440 | 120867479:120867676 | ENSG00000119979.11 | ENST00000361432.2,ENST00000535029.1 |
| exon_skip_45342 | 10 | 120864275:120864534:120864822:120865007:120867459:120867608 | 120864822:120865007 | ENSG00000119979.11 | ENST00000497903.1 |
| exon_skip_45343 | 10 | 120864275:120864534:120864822:120865007:120867479:120867676 | 120864822:120865007 | ENSG00000119979.11 | ENST00000493766.1 |
| exon_skip_45346 | 10 | 120867479:120867676:120871360:120871440:120877030:120877179 | 120871360:120871440 | ENSG00000119979.11 | ENST00000487888.1,ENST00000361432.2,ENST00000535029.1 |
| exon_skip_45350 | 10 | 120871360:120871440:120877030:120877179:120879852:120879964 | 120877030:120877179 | ENSG00000119979.11 | ENST00000487888.1,ENST00000361432.2 |
| exon_skip_45351 | 10 | 120877030:120877179:120879852:120879964:120882980:120883081 | 120879852:120879964 | ENSG00000119979.11 | ENST00000489988.1,ENST00000487888.1,ENST00000448258.2,ENST00000361432.2 |
| exon_skip_45354 | 10 | 120877030:120877179:120882980:120883081:120889026:120889058 | 120882980:120883081 | ENSG00000119979.11 | ENST00000535029.1 |
| exon_skip_45356 | 10 | 120879893:120879964:120882980:120883081:120889026:120889058 | 120882980:120883081 | ENSG00000119979.11 | ENST00000489988.1,ENST00000487888.1,ENST00000448258.2,ENST00000361432.2,ENST00000544016.1,ENST00000498549.1 |
| exon_skip_45360 | 10 | 120882980:120883081:120889026:120889134:120892026:120892121 | 120889026:120889134 | ENSG00000119979.11 | ENST00000489988.1,ENST00000361432.2,ENST00000535029.1,ENST00000544016.1,ENST00000498549.1 |
| exon_skip_45363 | 10 | 120889026:120889134:120892026:120892121:120895982:120896139 | 120892026:120892121 | ENSG00000119979.11 | ENST00000489988.1,ENST00000361432.2,ENST00000535029.1,ENST00000544016.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FAM45A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45329 | 10 | 120863628:120863709:120864275:120864534:120864822:120865007 | 120864275:120864534 | ENSG00000119979.11 | ENST00000497903.1,ENST00000493766.1 |
| exon_skip_45337 | 10 | 120863628:120863709:120867459:120867676:120871360:120871440 | 120867459:120867676 | ENSG00000119979.11 | ENST00000487888.1,ENST00000544016.1 |
| exon_skip_45338 | 10 | 120863628:120863709:120867479:120867676:120871360:120871440 | 120867479:120867676 | ENSG00000119979.11 | ENST00000535029.1,ENST00000361432.2 |
| exon_skip_45342 | 10 | 120864275:120864534:120864822:120865007:120867459:120867608 | 120864822:120865007 | ENSG00000119979.11 | ENST00000497903.1 |
| exon_skip_45343 | 10 | 120864275:120864534:120864822:120865007:120867479:120867676 | 120864822:120865007 | ENSG00000119979.11 | ENST00000493766.1 |
| exon_skip_45346 | 10 | 120867479:120867676:120871360:120871440:120877030:120877179 | 120871360:120871440 | ENSG00000119979.11 | ENST00000535029.1,ENST00000487888.1,ENST00000361432.2 |
| exon_skip_45350 | 10 | 120871360:120871440:120877030:120877179:120879852:120879964 | 120877030:120877179 | ENSG00000119979.11 | ENST00000487888.1,ENST00000361432.2 |
| exon_skip_45351 | 10 | 120877030:120877179:120879852:120879964:120882980:120883081 | 120879852:120879964 | ENSG00000119979.11 | ENST00000487888.1,ENST00000448258.2,ENST00000361432.2,ENST00000489988.1 |
| exon_skip_45354 | 10 | 120877030:120877179:120882980:120883081:120889026:120889058 | 120882980:120883081 | ENSG00000119979.11 | ENST00000535029.1 |
| exon_skip_45356 | 10 | 120879893:120879964:120882980:120883081:120889026:120889058 | 120882980:120883081 | ENSG00000119979.11 | ENST00000487888.1,ENST00000448258.2,ENST00000361432.2,ENST00000544016.1,ENST00000489988.1,ENST00000498549.1 |
| exon_skip_45360 | 10 | 120882980:120883081:120889026:120889134:120892026:120892121 | 120889026:120889134 | ENSG00000119979.11 | ENST00000535029.1,ENST00000361432.2,ENST00000544016.1,ENST00000489988.1,ENST00000498549.1 |
| exon_skip_45363 | 10 | 120889026:120889134:120892026:120892121:120895982:120896139 | 120892026:120892121 | ENSG00000119979.11 | ENST00000535029.1,ENST00000361432.2,ENST00000544016.1,ENST00000489988.1 |
| 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 FAM45A |
| 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 |
| ENST00000361432 | 120867479 | 120867676 | Frame-shift |
| ENST00000361432 | 120871360 | 120871440 | Frame-shift |
| ENST00000361432 | 120877030 | 120877179 | Frame-shift |
| ENST00000361432 | 120879852 | 120879964 | Frame-shift |
| ENST00000361432 | 120882980 | 120883081 | Frame-shift |
| ENST00000361432 | 120892026 | 120892121 | Frame-shift |
| ENST00000361432 | 120889026 | 120889134 | 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 |
| ENST00000361432 | 120867479 | 120867676 | Frame-shift |
| ENST00000361432 | 120871360 | 120871440 | Frame-shift |
| ENST00000361432 | 120877030 | 120877179 | Frame-shift |
| ENST00000361432 | 120879852 | 120879964 | Frame-shift |
| ENST00000361432 | 120882980 | 120883081 | Frame-shift |
| ENST00000361432 | 120892026 | 120892121 | Frame-shift |
| ENST00000361432 | 120889026 | 120889134 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAM45A |
| 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 |
| ENST00000361432 | 1665 | 357 | 120889026 | 120889134 | 721 | 828 | 231 | 267 |
| 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 |
| ENST00000361432 | 1665 | 357 | 120889026 | 120889134 | 721 | 828 | 231 | 267 |
| 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 |
| Q8TCE6 | 231 | 267 | 1 | 357 | Chain | ID=PRO_0000187034;Note=Protein FAM45A |
| Q8TCE6 | 231 | 267 | 165 | 299 | Domain | Note=cDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q8TCE6 | 231 | 267 | 267 | 267 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q8TCE6 | 231 | 267 | 1 | 357 | Chain | ID=PRO_0000187034;Note=Protein FAM45A |
| Q8TCE6 | 231 | 267 | 165 | 299 | Domain | Note=cDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q8TCE6 | 231 | 267 | 267 | 267 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for FAM45A |
| - 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_45350 | 120877031 | 120877179 | 120877059 | 120877059 | Frame_Shift_Del | A | - | p.K121fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_45350 | 120877031 | 120877179 | 120877094 | 120877094 | Frame_Shift_Del | G | - | p.K132fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_45350 | 120877031 | 120877179 | 120877114 | 120877114 | Frame_Shift_Del | A | - | p.E139fs |
| LIHC | TCGA-DD-AAW3-01 | exon_skip_45351 | 120879853 | 120879964 | 120879889 | 120879890 | Frame_Shift_Ins | - | A | p.L173fs |
| HNSC | TCGA-WA-A7GZ-01 | exon_skip_45350 | 120877031 | 120877179 | 120877149 | 120877149 | Nonsense_Mutation | C | T | p.R151* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_45350 | 120877031 | 120877179 | 120877030 | 120877030 | Splice_Site | G | A | . |
| - 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 |
| HT115_LARGE_INTESTINE | 120867460 | 120867676 | 120867491 | 120867491 | Missense_Mutation | A | C | p.N23H |
| HT115_LARGE_INTESTINE | 120867480 | 120867676 | 120867491 | 120867491 | Missense_Mutation | A | C | p.N23H |
| TT2609C02_THYROID | 120867460 | 120867676 | 120867525 | 120867526 | Missense_Mutation | CC | TT | p.S34F |
| TT2609C02_THYROID | 120867480 | 120867676 | 120867525 | 120867526 | Missense_Mutation | CC | TT | p.S34F |
| IM95_STOMACH | 120867460 | 120867676 | 120867586 | 120867586 | Missense_Mutation | A | T | p.K54N |
| IM95_STOMACH | 120867480 | 120867676 | 120867586 | 120867586 | Missense_Mutation | A | T | p.K54N |
| MM127_SKIN | 120867460 | 120867676 | 120867606 | 120867606 | Missense_Mutation | T | A | p.F61Y |
| MM127_SKIN | 120867480 | 120867676 | 120867606 | 120867606 | Missense_Mutation | T | A | p.F61Y |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 120867460 | 120867676 | 120867665 | 120867665 | Missense_Mutation | A | G | p.I81V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 120867480 | 120867676 | 120867665 | 120867665 | Missense_Mutation | A | G | p.I81V |
| SNU1040_LARGE_INTESTINE | 120877031 | 120877179 | 120877048 | 120877048 | Missense_Mutation | G | T | p.G117V |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120877031 | 120877179 | 120877113 | 120877113 | Missense_Mutation | G | C | p.E139Q |
| HT115_LARGE_INTESTINE | 120877031 | 120877179 | 120877119 | 120877119 | Missense_Mutation | G | A | p.G141S |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120877031 | 120877179 | 120877129 | 120877129 | Missense_Mutation | T | C | p.L144P |
| SQ1_LUNG | 120882981 | 120883081 | 120882992 | 120882992 | Missense_Mutation | C | T | p.A202V |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120882981 | 120883081 | 120883003 | 120883003 | Missense_Mutation | C | T | p.H206Y |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120882981 | 120883081 | 120883003 | 120883003 | Missense_Mutation | C | A | p.H206N |
| DOV13_OVARY | 120882981 | 120883081 | 120883012 | 120883012 | Missense_Mutation | G | A | p.D209N |
| HS294T_SKIN | 120882981 | 120883081 | 120883012 | 120883012 | Missense_Mutation | G | A | p.D209N |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120889027 | 120889134 | 120889038 | 120889038 | Missense_Mutation | G | A | p.G236R |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120892027 | 120892121 | 120892084 | 120892084 | Missense_Mutation | C | T | p.A287V |
| SW403_LARGE_INTESTINE | 120892027 | 120892121 | 120892089 | 120892089 | Missense_Mutation | G | T | p.D289Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM45A |
| 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_45360 | 10 | 120882980:120883081:120889026:120889134:120892026:120892121 | 120889026:120889134 | ENST00000489988.1,ENST00000361432.2,ENST00000535029.1,ENST00000544016.1,ENST00000498549.1 | THCA | rs3802739 | chr10:120889022 | T/C | 2.53e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM45A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM45A |
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RelatedDrugs for FAM45A |
| 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 FAM45A |
| 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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