|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for RELN |
 Gene summary |
| Gene information | Gene symbol | RELN | Gene ID | 5649 |
| Gene name | reelin | |
| Synonyms | ETL7|LIS2|PRO1598|RL | |
| Cytomap | 7q22.1 | |
| Type of gene | protein-coding | |
| Description | reelin | |
| Modification date | 20200322 | |
| 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 |
Top |
Gene structures and expression levels for RELN |
| 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. |
 |
ENSG00000189056
| 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 |
| DLPFC | UP | ENST00000478148.1 | RELN-207:retained_intron:RELN | 1.748483e+00 | 1.029102e+00 | 1.859475e-04 | 1.059970e-02 |
| DLPFC | DOWN | ENST00000428762.6 | RELN-203:protein_coding:RELN | 1.740287e+02 | -8.393750e-01 | 1.121721e-03 | 3.625711e-02 |
| PG | UP | ENST00000478148.1 | RELN-207:retained_intron:RELN | 1.503286e+01 | 1.306655e+00 | 9.427978e-08 | 1.447948e-05 |
| PG | UP | ENST00000429186.1 | RELN-204:protein_coding:RELN | 1.028548e+01 | 1.264442e+00 | 2.473131e-04 | 5.325036e-03 |
| PG | DOWN | ENST00000428762.6 | RELN-203:protein_coding:RELN | 2.123379e+02 | -9.193207e-01 | 3.167788e-03 | 3.308134e-02 |
| CB | UP | ENST00000478148.1 | RELN-207:retained_intron:RELN | 1.366291e+01 | 1.140204e+00 | 4.433817e-09 | 1.519291e-07 |
| TC | UP | ENST00000478148.1 | RELN-207:retained_intron:RELN | 1.632723e+01 | 1.173037e+00 | 5.277605e-06 | 1.555531e-04 |
| TC | DOWN | ENST00000428762.6 | RELN-203:protein_coding:RELN | 3.544514e+02 | -1.325017e+00 | 5.701862e-06 | 1.652379e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RELN |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_116144 | chr7 | 103472805:103472908:103478389:103478394:103482873:103482948 | 103478389:103478394 |
| exon_skip_13997 | chr7 | 103542731:103542878:103545124:103545344:103551067:103551296 | 103545124:103545344 |
| exon_skip_14104 | chr7 | 103833537:103833672:103917075:103917185:103989131:103989516 | 103917075:103917185 |
| exon_skip_14208 | chr7 | 103472230:103472908:103478389:103478394:103482873:103482971 | 103478389:103478394 |
| exon_skip_145732 | chr7 | 103629940:103630176:103635425:103635586:103636235:103636468 | 103635425:103635586 |
| exon_skip_174546 | chr7 | 103522022:103522199:103523391:103523531:103535316:103535484 | 103523391:103523531 |
| exon_skip_191768 | chr7 | 103498077:103498252:103500745:103500922:103503016:103503230 | 103500745:103500922 |
| exon_skip_208605 | chr7 | 103490668:103490829:103491953:103492026:103495723:103495895 | 103491953:103492026 |
| exon_skip_217350 | chr7 | 103652551:103652759:103654093:103654205:103661376:103661527 | 103654093:103654205 |
| exon_skip_242908 | chr7 | 103604346:103604483:103610695:103610807:103611611:103611803 | 103610695:103610807 |
| exon_skip_268384 | chr7 | 103472230:103472908:103478389:103478524:103482873:103482948 | 103478389:103478524 |
| exon_skip_45492 | chr7 | 103472230:103472908:103478389:103478394:103482873:103482948 | 103478389:103478394 |
| exon_skip_52929 | chr7 | 103472805:103472908:103478389:103478524:103482873:103482948 | 103478389:103478524 |
| exon_skip_56712 | chr7 | 103596456:103596661:103603304:103603490:103604346:103604483 | 103603304:103603490 |
| exon_skip_60384 | chr7 | 103510851:103511005:103515185:103515441:103519323:103519516 | 103515185:103515441 |
| exon_skip_80972 | chr7 | 103697853:103698093:103700910:103701006:103723140:103723191 | 103700910:103701006 |
| exon_skip_84996 | chr7 | 103566601:103566759:103572184:103572260:103574092:103574299 | 103572184:103572260 |
| exon_skip_89322 | chr7 | 103776557:103776627:103833537:103833672:103917075:103917185 | 103833537:103833672 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
 |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_14208 | ROSMAP_PCC | 5.735965e-01 | 6.992308e-01 | -1.256343e-01 | 1.108348e-02 |
| exon_skip_45492 | Mayo_TC | 2.997531e-01 | 4.856944e-01 | -1.859414e-01 | 2.413440e-04 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for RELN |
| 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 |
| ENST00000428762 | 103700910 | 103701006 | Frame-shift |
| ENST00000428762 | 103478389 | 103478394 | In-frame |
| ENST00000428762 | 103523391 | 103523531 | 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 |
| ENST00000428762 | 103700910 | 103701006 | Frame-shift |
| ENST00000428762 | 103478389 | 103478394 | 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 |
| ENST00000428762 | 103491953 | 103492026 | Frame-shift |
| ENST00000428762 | 103500745 | 103500922 | Frame-shift |
| ENST00000428762 | 103515185 | 103515441 | Frame-shift |
| ENST00000428762 | 103545124 | 103545344 | Frame-shift |
| ENST00000428762 | 103572184 | 103572260 | Frame-shift |
| ENST00000428762 | 103603304 | 103603490 | Frame-shift |
| ENST00000428762 | 103610695 | 103610807 | Frame-shift |
| ENST00000428762 | 103654093 | 103654205 | Frame-shift |
| ENST00000428762 | 103700910 | 103701006 | Frame-shift |
| ENST00000428762 | 103833537 | 103833672 | Frame-shift |
| ENST00000428762 | 103478389 | 103478394 | In-frame |
| ENST00000428762 | 103635425 | 103635586 | In-frame |
| ENST00000428762 | 103917075 | 103917185 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for RELN |
p-ENSG00000189056_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 |
| ENST00000428762 | 11588 | 3460 | 103523391 | 103523531 | 7510 | 7649 | 2450 | 2496 |
| 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 |
| 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 |
| ENST00000428762 | 11588 | 3460 | 103917075 | 103917185 | 387 | 496 | 75 | 112 |
| ENST00000428762 | 11588 | 3460 | 103635425 | 103635586 | 2464 | 2624 | 768 | 821 |
| 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 |
| P78509 | 2450 | 2496 | 26 | 3460 | Chain | ID=PRO_0000030304;Note=Reelin |
| P78509 | 2450 | 2496 | 2392 | 2558 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| P78509 | 2450 | 2496 | 2477 | 2508 | Domain | Note=EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| P78509 | 2450 | 2496 | 2459 | 2459 | Metal binding | Note=Zinc 2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| 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 |
| P78509 | 75 | 112 | 26 | 3460 | Chain | ID=PRO_0000030304;Note=Reelin |
| P78509 | 75 | 112 | 40 | 126 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| P78509 | 75 | 112 | 26 | 190 | Domain | Note=Reelin;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00363 |
| P78509 | 768 | 821 | 26 | 3460 | Chain | ID=PRO_0000030304;Note=Reelin |
| P78509 | 768 | 821 | 798 | 798 | Natural variant | ID=VAR_073865;Note=In ETL7. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26046367;Dbxref=dbSNP:rs794727996,PMID:26046367 |
| P78509 | 768 | 821 | 798 | 809 | Repeat | Note=BNR 2 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in RELN |
| 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 |
Top |
SNVs in the skipped exons for RELN |
| - 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 |
Top |
AD stage-associated exon skippint events for RELN |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RELN |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_116144 | rs3823992 | chr7:103479416 | 2.586637e-04 | 3.637484e-02 |
| CB | exon_skip_116144 | rs362731 | chr7:103568581 | 3.799929e-04 | 4.870580e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for RELN |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | UNK | exon_skip_104239 | 4.190395e-01 | 8.556138e-08 |
| CB | TIA1 | exon_skip_94904 | 5.391582e-01 | 9.190987e-13 |
| CB | PCBP4 | exon_skip_94904 | 4.643841e-01 | 1.899856e-09 |
| CB | UNK | exon_skip_94904 | 4.166649e-01 | 1.028894e-07 |
| CB | HNRNPDL | exon_skip_94904 | 4.659777e-01 | 1.644734e-09 |
| CB | NUP42 | exon_skip_94904 | 6.698482e-01 | 5.233334e-21 |
| CB | RALYL | exon_skip_94904 | 4.166263e-01 | 1.031969e-07 |
| CB | PABPC1 | exon_skip_94904 | 4.226823e-01 | 6.429826e-08 |
| CB | TIA1 | exon_skip_52929 | 5.226051e-01 | 4.983971e-12 |
| CB | NUP42 | exon_skip_52929 | 5.824914e-01 | 3.491342e-15 |
| CB | RALYL | exon_skip_52929 | 4.861542e-01 | 2.162005e-10 |
| CB | PCBP4 | exon_skip_80972 | 4.288830e-01 | 3.532561e-08 |
| CB | TRA2A | exon_skip_80972 | -5.463353e-01 | 3.327614e-13 |
| CB | NUP42 | exon_skip_80972 | 5.167165e-01 | 9.448700e-12 |
| HCC | MSI1 | exon_skip_14208 | -5.175235e-01 | 1.078141e-19 |
| HCC | UNK | exon_skip_14208 | -4.359915e-01 | 8.160700e-14 |
| HCC | RBFOX2 | exon_skip_268384 | 4.146130e-01 | 3.182544e-12 |
| HCC | PTBP1 | exon_skip_268384 | -4.116945e-01 | 4.662590e-12 |
| TC | RBFOX2 | exon_skip_268384 | 4.645702e-01 | 1.073809e-08 |
Top |
RelatedDrugs for RELN |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for RELN |
| 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)
|