|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for ALPL |
 Gene summary |
| Gene information | Gene symbol | ALPL | Gene ID | 249 |
| Gene name | alkaline phosphatase, liver/bone/kidney | |
| Synonyms | AP-TNAP|APTNAP|HOPS|TNALP|TNAP|TNSALP | |
| Cytomap | 1p36.12 | |
| Type of gene | protein-coding | |
| Description | alkaline phosphatase, tissue-nonspecific isozymealkaline phosphatase liver/bone/kidney isozymeliver/bone/kidney-type alkaline phosphatasetissue non-specific alkaline phosphatasetissue-nonspecific ALP | |
| Modification date | 20180522 | |
| UniProtAcc | P05186 | |
| Context | PubMed: ALPL [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 |
Top |
Exon skipping events across known transcript of Ensembl for ALPL 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. |
 |
Top |
Gene isoform structures and expression levels for ALPL |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ALPL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2275 | 1 | 21835889:21836010:21880470:21880635:21887118:21887238 | 21880470:21880635 | ENSG00000162551.9 | ENST00000374840.3 |
| exon_skip_2280 | 1 | 21877771:21877921:21880470:21880635:21887118:21887238 | 21880470:21880635 | ENSG00000162551.9 | ENST00000374832.1 |
| exon_skip_2282 | 1 | 21880574:21880635:21887118:21887238:21887589:21887705 | 21887118:21887238 | ENSG00000162551.9 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3 |
| exon_skip_2287 | 1 | 21887120:21887238:21887589:21887705:21889602:21889777 | 21887589:21887705 | ENSG00000162551.9 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000468526.1,ENST00000540617.1 |
| exon_skip_2291 | 1 | 21890533:21890709:21894596:21894740:21896797:21896867 | 21894596:21894740 | ENSG00000162551.9 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 |
| exon_skip_2295 | 1 | 21896797:21896867:21900157:21900292:21902225:21902417 | 21900157:21900292 | ENSG00000162551.9 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 |
| exon_skip_2296 | 1 | 21902225:21902417:21903014:21903134:21903875:21904224 | 21903014:21903134 | ENSG00000162551.9 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000374829.1,ENST00000374830.1,ENST00000540617.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ALPL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2275 | 1 | 21835889:21836010:21880470:21880635:21887118:21887238 | 21880470:21880635 | ENSG00000162551.9 | ENST00000374840.3 |
| exon_skip_2280 | 1 | 21877771:21877921:21880470:21880635:21887118:21887238 | 21880470:21880635 | ENSG00000162551.9 | ENST00000374832.1 |
| exon_skip_2282 | 1 | 21880574:21880635:21887118:21887238:21887589:21887705 | 21887118:21887238 | ENSG00000162551.9 | ENST00000374840.3,ENST00000374832.1,ENST00000425315.2 |
| exon_skip_2287 | 1 | 21887120:21887238:21887589:21887705:21889602:21889777 | 21887589:21887705 | ENSG00000162551.9 | ENST00000540617.1,ENST00000374840.3,ENST00000468526.1,ENST00000374832.1,ENST00000425315.2 |
| exon_skip_2291 | 1 | 21890533:21890709:21894596:21894740:21896797:21896867 | 21894596:21894740 | ENSG00000162551.9 | ENST00000539907.1,ENST00000540617.1,ENST00000374840.3,ENST00000374832.1,ENST00000425315.2 |
| exon_skip_2295 | 1 | 21896797:21896867:21900157:21900292:21902225:21902417 | 21900157:21900292 | ENSG00000162551.9 | ENST00000539907.1,ENST00000540617.1,ENST00000374840.3,ENST00000374832.1,ENST00000425315.2 |
| exon_skip_2296 | 1 | 21902225:21902417:21903014:21903134:21903875:21904224 | 21903014:21903134 | ENSG00000162551.9 | ENST00000539907.1,ENST00000540617.1,ENST00000374840.3,ENST00000374832.1,ENST00000425315.2,ENST00000374830.1,ENST00000374829.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ALPL |
| 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 |
| ENST00000374832 | 21880470 | 21880635 | 5CDS-5UTR |
| ENST00000374840 | 21880470 | 21880635 | 5CDS-5UTR |
| ENST00000374832 | 21887589 | 21887705 | Frame-shift |
| ENST00000374840 | 21887589 | 21887705 | Frame-shift |
| ENST00000374832 | 21887118 | 21887238 | In-frame |
| ENST00000374840 | 21887118 | 21887238 | In-frame |
| ENST00000374832 | 21894596 | 21894740 | In-frame |
| ENST00000374840 | 21894596 | 21894740 | In-frame |
| ENST00000374832 | 21900157 | 21900292 | In-frame |
| ENST00000374840 | 21900157 | 21900292 | In-frame |
| ENST00000374832 | 21903014 | 21903134 | In-frame |
| ENST00000374840 | 21903014 | 21903134 | 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 |
| ENST00000374832 | 21880470 | 21880635 | 5CDS-5UTR |
| ENST00000374840 | 21880470 | 21880635 | 5CDS-5UTR |
| ENST00000374832 | 21887589 | 21887705 | Frame-shift |
| ENST00000374840 | 21887589 | 21887705 | Frame-shift |
| ENST00000374832 | 21887118 | 21887238 | In-frame |
| ENST00000374840 | 21887118 | 21887238 | In-frame |
| ENST00000374832 | 21894596 | 21894740 | In-frame |
| ENST00000374840 | 21894596 | 21894740 | In-frame |
| ENST00000374832 | 21900157 | 21900292 | In-frame |
| ENST00000374840 | 21900157 | 21900292 | In-frame |
| ENST00000374832 | 21903014 | 21903134 | In-frame |
| ENST00000374840 | 21903014 | 21903134 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ALPL |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000374832 | 2210 | 524 | 21887118 | 21887238 | 316 | 435 | 20 | 60 |
| ENST00000374840 | 2606 | 524 | 21887118 | 21887238 | 312 | 431 | 20 | 60 |
| ENST00000374832 | 2210 | 524 | 21894596 | 21894740 | 903 | 1046 | 216 | 264 |
| ENST00000374840 | 2606 | 524 | 21894596 | 21894740 | 899 | 1042 | 216 | 264 |
| ENST00000374832 | 2210 | 524 | 21900157 | 21900292 | 1117 | 1251 | 287 | 332 |
| ENST00000374840 | 2606 | 524 | 21900157 | 21900292 | 1113 | 1247 | 287 | 332 |
| ENST00000374832 | 2210 | 524 | 21903014 | 21903134 | 1444 | 1563 | 396 | 436 |
| ENST00000374840 | 2606 | 524 | 21903014 | 21903134 | 1440 | 1559 | 396 | 436 |
| 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 |
| ENST00000374832 | 2210 | 524 | 21887118 | 21887238 | 316 | 435 | 20 | 60 |
| ENST00000374840 | 2606 | 524 | 21887118 | 21887238 | 312 | 431 | 20 | 60 |
| ENST00000374832 | 2210 | 524 | 21894596 | 21894740 | 903 | 1046 | 216 | 264 |
| ENST00000374840 | 2606 | 524 | 21894596 | 21894740 | 899 | 1042 | 216 | 264 |
| ENST00000374832 | 2210 | 524 | 21900157 | 21900292 | 1117 | 1251 | 287 | 332 |
| ENST00000374840 | 2606 | 524 | 21900157 | 21900292 | 1113 | 1247 | 287 | 332 |
| ENST00000374832 | 2210 | 524 | 21903014 | 21903134 | 1444 | 1563 | 396 | 436 |
| ENST00000374840 | 2606 | 524 | 21903014 | 21903134 | 1440 | 1559 | 396 | 436 |
| 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 |
Top |
SNVs in the skipped exons for ALPL |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| KICH | TCGA-KN-8428-01 | exon_skip_2282 | 21887119 | 21887238 | 21887145 | 21887145 | Nonsense_Mutation | C | T | p.R30* |
| KICH | TCGA-KN-8428-01 | exon_skip_2282 | 21887119 | 21887238 | 21887145 | 21887145 | Nonsense_Mutation | C | T | p.R30X |
| STAD | TCGA-EQ-8122-01 | exon_skip_2296 | 21903015 | 21903134 | 21903107 | 21903107 | Nonsense_Mutation | C | T | p.R428* |
| SKCM | TCGA-EE-A2MS-06 | exon_skip_2291 | 21894597 | 21894740 | 21894741 | 21894741 | 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 |
| KNS62_LUNG | 21880471 | 21880635 | 21880592 | 21880592 | Missense_Mutation | A | T | p.L6F |
| JL1_PLEURA | 21880471 | 21880635 | 21880596 | 21880596 | Missense_Mutation | C | G | p.L8V |
| RT112_URINARY_TRACT | 21887119 | 21887238 | 21887133 | 21887133 | Missense_Mutation | C | T | p.P26S |
| KYAE1_OESOPHAGUS | 21887119 | 21887238 | 21887136 | 21887136 | Missense_Mutation | A | G | p.K27E |
| LU134A_LUNG | 21887119 | 21887238 | 21887225 | 21887225 | Missense_Mutation | G | A | p.M56I |
| CAL54_KIDNEY | 21887119 | 21887238 | 21887229 | 21887229 | Missense_Mutation | C | G | p.L58V |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21887590 | 21887705 | 21887620 | 21887620 | Missense_Mutation | G | A | p.R71H |
| SARC9371_BONE | 21894597 | 21894740 | 21894607 | 21894607 | Missense_Mutation | G | A | p.G220E |
| EKVX_LUNG | 21894597 | 21894740 | 21894652 | 21894652 | Missense_Mutation | A | G | p.E235G |
| SNU81_LARGE_INTESTINE | 21894597 | 21894740 | 21894672 | 21894672 | Missense_Mutation | G | A | p.A242T |
| SCC25_UPPER_AERODIGESTIVE_TRACT | 21894597 | 21894740 | 21894736 | 21894736 | Missense_Mutation | A | G | p.Y263C |
| SW13_ADRENAL_CORTEX | 21900158 | 21900292 | 21900170 | 21900170 | Missense_Mutation | C | T | p.P292L |
| ME180_CERVIX | 21900158 | 21900292 | 21900176 | 21900176 | Missense_Mutation | A | C | p.D294A |
| YD8_UPPER_AERODIGESTIVE_TRACT | 21900158 | 21900292 | 21900182 | 21900182 | Missense_Mutation | A | T | p.Q296L |
| KYSE180_OESOPHAGUS | 21900158 | 21900292 | 21900211 | 21900211 | Missense_Mutation | G | A | p.D306N |
| SW48_LARGE_INTESTINE | 21900158 | 21900292 | 21900231 | 21900231 | Missense_Mutation | G | A | p.M312I |
| HCC2450_LUNG | 21903015 | 21903134 | 21903110 | 21903110 | Missense_Mutation | G | C | p.E429Q |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALPL |
| 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_2295 | 1 | 21896797:21896867:21900157:21900292:21902225:21902417 | 21900157:21900292 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | GBM | rs3200255 | chr1:21900171 | A/G | 7.10e-04 |
| exon_skip_2295 | 1 | 21896797:21896867:21900157:21900292:21902225:21902417 | 21900157:21900292 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | HNSC | rs3200255 | chr1:21900171 | A/G | 1.75e-04 |
| exon_skip_2295 | 1 | 21896797:21896867:21900157:21900292:21902225:21902417 | 21900157:21900292 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | KIRC | rs3200255 | chr1:21900171 | A/G | 2.61e-06 |
| exon_skip_2295 | 1 | 21896797:21896867:21900157:21900292:21902225:21902417 | 21900157:21900292 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | TGCT | rs3200255 | chr1:21900171 | A/G | 9.16e-07 |
| exon_skip_2295 | 1 | 21896797:21896867:21900157:21900292:21902225:21902417 | 21900157:21900292 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | STAD | rs3200255 | chr1:21900171 | A/G | 1.53e-06 |
| exon_skip_2295 | 1 | 21896797:21896867:21900157:21900292:21902225:21902417 | 21900157:21900292 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | UCEC | rs3200255 | chr1:21900171 | A/G | 2.26e-06 |
| exon_skip_2291 | 1 | 21890533:21890709:21894596:21894740:21896797:21896867 | 21894596:21894740 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | GBM | rs3200254 | chr1:21894735 | T/C | 6.02e-04 |
| exon_skip_2291 | 1 | 21890533:21890709:21894596:21894740:21896797:21896867 | 21894596:21894740 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | HNSC | rs3200254 | chr1:21894735 | T/C | 2.76e-04 |
| exon_skip_2291 | 1 | 21890533:21890709:21894596:21894740:21896797:21896867 | 21894596:21894740 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | LGG | rs3200254 | chr1:21894735 | T/C | 1.24e-03 |
| exon_skip_2291 | 1 | 21890533:21890709:21894596:21894740:21896797:21896867 | 21894596:21894740 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | KIRC | rs3200254 | chr1:21894735 | T/C | 1.71e-06 |
| exon_skip_2291 | 1 | 21890533:21890709:21894596:21894740:21896797:21896867 | 21894596:21894740 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | OV | rs3200254 | chr1:21894735 | T/C | 4.03e-07 |
| exon_skip_2291 | 1 | 21890533:21890709:21894596:21894740:21896797:21896867 | 21894596:21894740 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | TGCT | rs3200254 | chr1:21894735 | T/C | 4.85e-08 |
| exon_skip_2291 | 1 | 21890533:21890709:21894596:21894740:21896797:21896867 | 21894596:21894740 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | STAD | rs3200254 | chr1:21894735 | T/C | 2.92e-06 |
| exon_skip_2291 | 1 | 21890533:21890709:21894596:21894740:21896797:21896867 | 21894596:21894740 | ENST00000425315.2,ENST00000374832.1,ENST00000374840.3,ENST00000539907.1,ENST00000540617.1 | UCEC | rs3200254 | chr1:21894735 | T/C | 5.92e-05 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALPL |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALPL |
Top |
RelatedDrugs for ALPL |
| 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 |
Top |
RelatedDiseases for ALPL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ALPL | C0268413 | Adult hypophosphatasia (disorder) | 27 | CTD_human;ORPHANET;UNIPROT |
| ALPL | C0220743 | Childhood hypophosphatasia (disorder) | 8 | CTD_human;ORPHANET;UNIPROT |
| ALPL | C0268412 | Infantile hypophosphatasia | 5 | CTD_human;HPO;ORPHANET;UNIPROT |
| ALPL | C0002382 | Alveolar Bone Loss | 1 | CTD_human |
| ALPL | C0006663 | Calcinosis | 1 | CTD_human |
| ALPL | C0018843 | Heat Stroke | 1 | CTD_human |
| ALPL | C0020503 | Hyperparathyroidism, Secondary | 1 | CTD_human |
| ALPL | C0023895 | Liver diseases | 1 | CTD_human |
| ALPL | C0036572 | Seizures | 1 | CTD_human;HPO |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|