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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for PHLDB1 |
 Gene summary |
| Gene information | Gene symbol | PHLDB1 | Gene ID | 23187 |
| Gene name | pleckstrin homology like domain family B member 1 | |
| Synonyms | LL5A | |
| Cytomap | 11q23.3 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology-like domain family B member 1LL5alphapleckstrin homology-like domain family B member 1 variant 3pleckstrin homology-like domain family B member 1 variant 4protein LL5-alpha | |
| Modification date | 20200320 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for PHLDB1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000019144
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000621027.4 | PHLDB1-228:lncRNA:PHLDB1 | 2.095846e+01 | 9.271674e-01 | 1.298573e-03 | 4.410254e-02 |
| PG | UP | ENST00000617208.1 | PHLDB1-226:lncRNA:PHLDB1 | 6.889945e+00 | 8.196552e-01 | 7.972988e-07 | 7.439893e-05 |
| PG | UP | ENST00000621027.4 | PHLDB1-228:lncRNA:PHLDB1 | 3.175255e+01 | 8.571757e-01 | 7.071420e-05 | 2.127810e-03 |
| PG | UP | ENST00000527898.5 | PHLDB1-213:lncRNA:PHLDB1 | 4.002584e+00 | 2.569039e+00 | 3.438684e-03 | 3.511280e-02 |
| CB | UP | ENST00000529005.5 | PHLDB1-216:lncRNA:PHLDB1 | 9.950750e+00 | 1.058576e+00 | 1.359172e-07 | 2.758234e-06 |
| CB | DOWN | ENST00000527898.5 | PHLDB1-213:lncRNA:PHLDB1 | 4.666434e+02 | -1.776561e+00 | 4.914439e-04 | 2.837977e-03 |
| CB | UP | ENST00000356063.9 | PHLDB1-201:protein_coding:PHLDB1 | 3.490278e+02 | 1.253111e+00 | 5.192521e-03 | 2.029796e-02 |
| CB | DOWN | ENST00000361417.6 | PHLDB1-202:protein_coding:PHLDB1 | 3.249508e+01 | -1.355877e+00 | 1.109346e-02 | 3.784857e-02 |
| TC | DOWN | ENST00000527898.5 | PHLDB1-213:lncRNA:PHLDB1 | 1.104880e+03 | -1.623652e+00 | 2.368215e-08 | 1.847772e-06 |
| TC | UP | ENST00000356063.9 | PHLDB1-201:protein_coding:PHLDB1 | 6.491466e+02 | 1.580256e+00 | 5.477844e-03 | 3.590538e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PHLDB1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_109110 | chr11 | 118614563:118614682:118616041:118616211:118624934:118625059 | 118616041:118616211 |
| exon_skip_109410 | chr11 | 118655610:118655690:118655860:118655892:118656683:118656841 | 118655860:118655892 |
| exon_skip_109628 | chr11 | 118650077:118650193:118650445:118650547:118655605:118655690 | 118650445:118650547 |
| exon_skip_126043 | chr11 | 118632242:118632296:118634923:118635051:118635393:118635548 | 118634923:118635051 |
| exon_skip_126084 | chr11 | 118650445:118650547:118655605:118655690:118656683:118656841 | 118655605:118655690 |
| exon_skip_138183 | chr11 | 118655605:118655690:118655860:118655892:118656683:118656706 | 118655860:118655892 |
| exon_skip_146297 | chr11 | 118621363:118621538:118624934:118625059:118627305:118627396 | 118624934:118625059 |
| exon_skip_147803 | chr11 | 118607643:118607699:118613294:118613450:118613816:118613896 | 118613294:118613450 |
| exon_skip_165121 | chr11 | 118639162:118639251:118642254:118642394:118643800:118643940 | 118642254:118642394 |
| exon_skip_212444 | chr11 | 118655605:118655690:118655860:118655892:118656683:118656841 | 118655860:118655892 |
| exon_skip_21251 | chr11 | 118616041:118616211:118624792:118624845:118624934:118625059 | 118624792:118624845 |
| exon_skip_219388 | chr11 | 118638891:118639001:118639162:118639251:118643800:118643940 | 118639162:118639251 |
| exon_skip_220441 | chr11 | 118614559:118614682:118616041:118616211:118624934:118625059 | 118616041:118616211 |
| exon_skip_221392 | chr11 | 118631976:118632053:118632159:118632296:118635393:118635509 | 118632159:118632296 |
| exon_skip_243611 | chr11 | 118638891:118639001:118639162:118639251:118642254:118642394 | 118639162:118639251 |
| exon_skip_244939 | chr11 | 118631976:118632053:118632159:118632296:118635393:118635548 | 118632159:118632296 |
| exon_skip_245299 | chr11 | 118632024:118632053:118632159:118632296:118635393:118635548 | 118632159:118632296 |
| exon_skip_245824 | chr11 | 118616041:118616211:118624934:118625059:118627305:118627396 | 118624934:118625059 |
| exon_skip_264 | chr11 | 118631976:118632053:118632159:118632296:118634923:118635051 | 118632159:118632296 |
| exon_skip_264304 | chr11 | 118616041:118616211:118624934:118625059:118627308:118627390 | 118624934:118625059 |
| exon_skip_292891 | chr11 | 118644072:118644174:118644647:118644691:118645356:118645372 | 118644647:118644691 |
| exon_skip_295272 | chr11 | 118632159:118632296:118634923:118635051:118635393:118635548 | 118634923:118635051 |
| exon_skip_80981 | chr11 | 118644072:118644174:118644647:118644691:118645356:118645650 | 118644647:118644691 |
| exon_skip_81551 | chr11 | 118624934:118625059:118627305:118628650:118631207:118631479 | 118627305:118628650 |
| exon_skip_86964 | chr11 | 118644072:118644174:118644647:118644691:118645356:118645420 | 118644647:118644691 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_165121 | Mayo_TC | 4.873171e-01 | 6.335897e-01 | -1.462727e-01 | 2.671504e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for PHLDB1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000361417 | 118650445 | 118650547 | Frame-shift |
| ENST00000600882 | 118650445 | 118650547 | Frame-shift |
| ENST00000361417 | 118616041 | 118616211 | In-frame |
| ENST00000600882 | 118616041 | 118616211 | In-frame |
| ENST00000361417 | 118632159 | 118632296 | In-frame |
| ENST00000600882 | 118632159 | 118632296 | In-frame |
| ENST00000361417 | 118642254 | 118642394 | In-frame |
| ENST00000600882 | 118642254 | 118642394 | In-frame |
| ENST00000361417 | 118655860 | 118655892 | In-frame |
| ENST00000600882 | 118655860 | 118655892 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000361417 | 118650445 | 118650547 | Frame-shift |
| ENST00000600882 | 118650445 | 118650547 | Frame-shift |
| ENST00000361417 | 118616041 | 118616211 | In-frame |
| ENST00000600882 | 118616041 | 118616211 | In-frame |
| ENST00000361417 | 118632159 | 118632296 | In-frame |
| ENST00000600882 | 118632159 | 118632296 | In-frame |
| ENST00000361417 | 118642254 | 118642394 | In-frame |
| ENST00000600882 | 118642254 | 118642394 | In-frame |
| ENST00000361417 | 118655860 | 118655892 | In-frame |
| ENST00000600882 | 118655860 | 118655892 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000361417 | 118627305 | 118628650 | Frame-shift |
| ENST00000600882 | 118627305 | 118628650 | Frame-shift |
| ENST00000361417 | 118650445 | 118650547 | Frame-shift |
| ENST00000600882 | 118650445 | 118650547 | Frame-shift |
| ENST00000361417 | 118616041 | 118616211 | In-frame |
| ENST00000600882 | 118616041 | 118616211 | In-frame |
| ENST00000361417 | 118624934 | 118625059 | In-frame |
| ENST00000600882 | 118624934 | 118625059 | In-frame |
| ENST00000361417 | 118632159 | 118632296 | In-frame |
| ENST00000600882 | 118632159 | 118632296 | In-frame |
| ENST00000361417 | 118639162 | 118639251 | In-frame |
| ENST00000600882 | 118639162 | 118639251 | In-frame |
| ENST00000361417 | 118642254 | 118642394 | In-frame |
| ENST00000600882 | 118642254 | 118642394 | In-frame |
| ENST00000361417 | 118655860 | 118655892 | In-frame |
| ENST00000600882 | 118655860 | 118655892 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PHLDB1 |
p-ENSG00000019144_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000361417 | 5770 | 1377 | 118616041 | 118616211 | 597 | 766 | 62 | 118 |
| ENST00000600882 | 5496 | 1377 | 118616041 | 118616211 | 316 | 485 | 62 | 118 |
| ENST00000361417 | 5770 | 1377 | 118632159 | 118632296 | 2654 | 2790 | 747 | 793 |
| ENST00000600882 | 5496 | 1377 | 118632159 | 118632296 | 2373 | 2509 | 747 | 793 |
| ENST00000361417 | 5770 | 1377 | 118642254 | 118642394 | 3149 | 3288 | 912 | 959 |
| ENST00000600882 | 5496 | 1377 | 118642254 | 118642394 | 2868 | 3007 | 912 | 959 |
| ENST00000361417 | 5770 | 1377 | 118655860 | 118655892 | 4373 | 4404 | 1320 | 1331 |
| ENST00000600882 | 5496 | 1377 | 118655860 | 118655892 | 4092 | 4123 | 1320 | 1331 |
| Loci of skipped exons in MSBB 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 |
| ENST00000361417 | 5770 | 1377 | 118616041 | 118616211 | 597 | 766 | 62 | 118 |
| ENST00000600882 | 5496 | 1377 | 118616041 | 118616211 | 316 | 485 | 62 | 118 |
| ENST00000361417 | 5770 | 1377 | 118632159 | 118632296 | 2654 | 2790 | 747 | 793 |
| ENST00000600882 | 5496 | 1377 | 118632159 | 118632296 | 2373 | 2509 | 747 | 793 |
| ENST00000361417 | 5770 | 1377 | 118642254 | 118642394 | 3149 | 3288 | 912 | 959 |
| ENST00000600882 | 5496 | 1377 | 118642254 | 118642394 | 2868 | 3007 | 912 | 959 |
| ENST00000361417 | 5770 | 1377 | 118655860 | 118655892 | 4373 | 4404 | 1320 | 1331 |
| ENST00000600882 | 5496 | 1377 | 118655860 | 118655892 | 4092 | 4123 | 1320 | 1331 |
| Loci of skipped exons in Mayo 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 |
| ENST00000361417 | 5770 | 1377 | 118616041 | 118616211 | 597 | 766 | 62 | 118 |
| ENST00000600882 | 5496 | 1377 | 118616041 | 118616211 | 316 | 485 | 62 | 118 |
| ENST00000361417 | 5770 | 1377 | 118624934 | 118625059 | 768 | 892 | 119 | 160 |
| ENST00000600882 | 5496 | 1377 | 118624934 | 118625059 | 487 | 611 | 119 | 160 |
| ENST00000361417 | 5770 | 1377 | 118632159 | 118632296 | 2654 | 2790 | 747 | 793 |
| ENST00000600882 | 5496 | 1377 | 118632159 | 118632296 | 2373 | 2509 | 747 | 793 |
| ENST00000361417 | 5770 | 1377 | 118639162 | 118639251 | 3059 | 3147 | 882 | 912 |
| ENST00000600882 | 5496 | 1377 | 118639162 | 118639251 | 2778 | 2866 | 882 | 912 |
| ENST00000361417 | 5770 | 1377 | 118642254 | 118642394 | 3149 | 3288 | 912 | 959 |
| ENST00000600882 | 5496 | 1377 | 118642254 | 118642394 | 2868 | 3007 | 912 | 959 |
| ENST00000361417 | 5770 | 1377 | 118655860 | 118655892 | 4373 | 4404 | 1320 | 1331 |
| ENST00000600882 | 5496 | 1377 | 118655860 | 118655892 | 4092 | 4123 | 1320 | 1331 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q86UU1 | 62 | 118 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 62 | 118 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 62 | 118 | 64 | 125 | Domain | Note=FHA |
| Q86UU1 | 62 | 118 | 64 | 125 | Domain | Note=FHA |
| Q86UU1 | 747 | 793 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 747 | 793 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 747 | 793 | 683 | 809 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UU1 | 747 | 793 | 683 | 809 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UU1 | 912 | 959 | 913 | 959 | Alternative sequence | ID=VSP_016737;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q86UU1 | 912 | 959 | 913 | 959 | Alternative sequence | ID=VSP_016737;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q86UU1 | 912 | 959 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 912 | 959 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 1320 | 1331 | 1043 | 1377 | Alternative sequence | ID=VSP_016739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86UU1 | 1320 | 1331 | 1043 | 1377 | Alternative sequence | ID=VSP_016739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86UU1 | 1320 | 1331 | 1321 | 1331 | Alternative sequence | ID=VSP_016740;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86UU1 | 1320 | 1331 | 1321 | 1331 | Alternative sequence | ID=VSP_016740;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86UU1 | 1320 | 1331 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 1320 | 1331 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 1320 | 1331 | 1256 | 1370 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q86UU1 | 1320 | 1331 | 1256 | 1370 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q86UU1 | 62 | 118 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 62 | 118 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 62 | 118 | 64 | 125 | Domain | Note=FHA |
| Q86UU1 | 62 | 118 | 64 | 125 | Domain | Note=FHA |
| Q86UU1 | 747 | 793 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 747 | 793 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 747 | 793 | 683 | 809 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UU1 | 747 | 793 | 683 | 809 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UU1 | 912 | 959 | 913 | 959 | Alternative sequence | ID=VSP_016737;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q86UU1 | 912 | 959 | 913 | 959 | Alternative sequence | ID=VSP_016737;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q86UU1 | 912 | 959 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 912 | 959 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 1320 | 1331 | 1043 | 1377 | Alternative sequence | ID=VSP_016739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86UU1 | 1320 | 1331 | 1043 | 1377 | Alternative sequence | ID=VSP_016739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86UU1 | 1320 | 1331 | 1321 | 1331 | Alternative sequence | ID=VSP_016740;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86UU1 | 1320 | 1331 | 1321 | 1331 | Alternative sequence | ID=VSP_016740;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86UU1 | 1320 | 1331 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 1320 | 1331 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 1320 | 1331 | 1256 | 1370 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q86UU1 | 1320 | 1331 | 1256 | 1370 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q86UU1 | 62 | 118 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 62 | 118 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 62 | 118 | 64 | 125 | Domain | Note=FHA |
| Q86UU1 | 62 | 118 | 64 | 125 | Domain | Note=FHA |
| Q86UU1 | 119 | 160 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 119 | 160 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 119 | 160 | 64 | 125 | Domain | Note=FHA |
| Q86UU1 | 119 | 160 | 64 | 125 | Domain | Note=FHA |
| Q86UU1 | 119 | 160 | 131 | 131 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6PDH0 |
| Q86UU1 | 119 | 160 | 131 | 131 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6PDH0 |
| Q86UU1 | 747 | 793 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 747 | 793 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 747 | 793 | 683 | 809 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UU1 | 747 | 793 | 683 | 809 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86UU1 | 882 | 912 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 882 | 912 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 912 | 959 | 913 | 959 | Alternative sequence | ID=VSP_016737;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q86UU1 | 912 | 959 | 913 | 959 | Alternative sequence | ID=VSP_016737;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q86UU1 | 912 | 959 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 912 | 959 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 1320 | 1331 | 1043 | 1377 | Alternative sequence | ID=VSP_016739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86UU1 | 1320 | 1331 | 1043 | 1377 | Alternative sequence | ID=VSP_016739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86UU1 | 1320 | 1331 | 1321 | 1331 | Alternative sequence | ID=VSP_016740;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86UU1 | 1320 | 1331 | 1321 | 1331 | Alternative sequence | ID=VSP_016740;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86UU1 | 1320 | 1331 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 1320 | 1331 | 1 | 1377 | Chain | ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1 |
| Q86UU1 | 1320 | 1331 | 1256 | 1370 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q86UU1 | 1320 | 1331 | 1256 | 1370 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PHLDB1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for PHLDB1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for PHLDB1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_91332 | 3.788484e-01 | 4.680150e-02 | chr11 | + | 118632159 | 118632296 | 118632577 | 118632774 | 118635393 | 118635548 |
| CDR | MSBB | IFG | exon_skip_157921 | 3.767354e-01 | 4.814301e-02 | chr11 | + | 118645766 | 118645825 | 118647775 | 118647836 | 118647930 | 118648076 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PHLDB1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for PHLDB1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF638 | exon_skip_187487 | 4.639069e-01 | 8.308635e-10 |
| CB | SRSF2 | exon_skip_165121 | 4.101037e-01 | 1.056352e-07 |
| CB | RBM6 | exon_skip_165121 | -4.379195e-01 | 1.084156e-08 |
| CB | PCBP4 | exon_skip_165121 | 4.893722e-01 | 9.009285e-11 |
| CB | NUP42 | exon_skip_165121 | 5.544847e-01 | 5.917024e-14 |
| CB | PABPN1 | exon_skip_212444 | -4.797171e-01 | 1.575578e-10 |
| CB | U2AF2 | exon_skip_212444 | -4.640960e-01 | 7.207554e-10 |
| IFG | SF1 | exon_skip_196963 | 4.139069e-01 | 4.959876e-02 |
| IFG | RBM24 | exon_skip_196963 | 4.177293e-01 | 4.732363e-02 |
| IFG | PTBP3 | exon_skip_196963 | 5.726763e-01 | 4.290969e-03 |
| IFG | RBFOX2 | exon_skip_187487 | 4.321290e-01 | 3.496254e-02 |
| IFG | RBM3 | exon_skip_187487 | -4.059394e-01 | 4.904355e-02 |
| IFG | MATR3 | exon_skip_187487 | 4.068124e-01 | 4.851223e-02 |
| IFG | G3BP2 | exon_skip_187487 | 4.417319e-01 | 3.068957e-02 |
| IFG | RBM24 | exon_skip_187487 | 4.613741e-01 | 2.324710e-02 |
| IFG | PUM1 | exon_skip_187487 | 4.328779e-01 | 3.461324e-02 |
| IFG | HNRNPC | exon_skip_187487 | 5.010951e-01 | 1.261890e-02 |
| IFG | RALYL | exon_skip_187487 | 4.107408e-01 | 4.617666e-02 |
| IFG | ESRP2 | exon_skip_165121 | -6.155219e-01 | 4.895353e-04 |
| STG | SRSF2 | exon_skip_165121 | 4.150277e-01 | 2.612965e-04 |
| STG | RBM25 | exon_skip_165121 | 4.417096e-01 | 9.151691e-05 |
| STG | NUP42 | exon_skip_165121 | 4.238195e-01 | 1.867055e-04 |
| TC | RBM3 | exon_skip_147803 | 4.832069e-01 | 9.688300e-11 |
| TC | SRSF2 | exon_skip_165121 | 5.215036e-01 | 1.540494e-12 |
| TC | PCBP4 | exon_skip_165121 | 6.035128e-01 | 3.002246e-17 |
| TC | SRSF5 | exon_skip_165121 | 4.225901e-01 | 2.599311e-08 |
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RelatedDrugs for PHLDB1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PHLDB1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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