HsaINT0122958 @ hg19
Intron Retention
Gene
ENSG00000162517 | PEF1
Description
penta-EF-hand domain containing 1 [Source:HGNC Symbol;Acc:30009]
Coordinates
chr1:32100823-32110218:-
Coord C1 exon
chr1:32109981-32110218
Coord A exon
chr1:32101124-32109980
Coord C2 exon
chr1:32100823-32101123
Length
8857 bp
Sequences
Splice sites
5' ss Seq
CAAGTGAGC
5' ss Score
6.39
3' ss Seq
ATATCTTGCTCTTCCTGCAGGGC
3' ss Score
10.95
Exon sequences
Seq C1 exon
CTCACTCGAGGATTTGGGGACCTTGGACCCCACAGGTCCAGGCTGGCGCTGGCCTGGGCTCCACAGCCTCCCAAGGCCCTCATGGGGGCCTTGGGCGGGGGCATCAGCCATGACCGGAGGTTTAGAGTTCTGGTTCCGCCGATCTCATTTGGGGCGTCGGATAAAAATCCAGGCTTCCGGACCCACCCCACACTGCATCAGAGTCATCAGGAAACTCTGGTTGTAGCAGGCGCCACAA
Seq A exon
GTGAGCTGGTTTGACCACTGACTTAGTTCAACACCGCCATTTCGCGTGTAGAAAAGTGAACCCCGAGAAGACACAGAACTTACCTGAAGTCACCAGGCAGTTAGGCAGCAGGGCCGAGGTCAGAACCCGGGCTATCTTCAGATGCCTCTTCCCCAGCGTATCTTGATTCAGTCAGGAATACCGCAGCAAGGTGATTCTGTGGCCAGAATTCTTTGTTGGGTGATAGTAGGGTGTTGAAGTGCACTTTGGTGTCAGAGGTAGGTTCATATCTTAGCTCTACCACCTAAATAGTTGTGAGCCCTTGAGCAAGCTGTTTTGCCTTTCTGAGTCCAAGTTTCCGCCTGTAAAATAGGGCCGAATAATAGGATCTGCCTCATAAAGCTGTTGTGGAGAGTCAGGAGGTGATGCTTACGAAGCGTTTGGTACATAGTGAGGTGTAACATGTGTTGCCCTTTAGCATTTTGATTTTTAGTAGACTTCTAAAAGGCCAGTGCCCGGAGGGTCCTCAAAATAGAGCCCTCATTTTACAGAGGAGGAAATGAAGCCCACAGAGGGCTGCGATCACACAGTTATTTAGGAGATGAAATCCATAAACGAAATGTGGGAAAACAAGATCAATTGGTATATTACACAGTGCTCAACTGAGTTTAGTCACAGGCCAAAAGATGTAACAGTCCTTCCAGGGAGTGCAGTCTTGTGCGGGTTACACAGTGTTTGGACCTCCATTATCCTAATCATGAAGTCCCTATCGGCATGCAGGTATTATTACCCCTAATTAACTGCTGAGGAGCAAACCCAAAGAGGTTAAGTGGCTTCCCAAAAGTCACACGTAGTAAGTGAGGGTGAGGCCATGACCAGAGCTTAGGACTTCTCTTATTGCATCCTTAGAGAGAGGTAGGAAAGAGAGAGGCCAGTGCGGGCTGGAGTTAGGAAGTGTAGCATAGCAGTTGCTTCCTAAAGTCCATTCCATTTGCTGAGTCTTGGGAGGTTTTAATAGATATTGTTAATATAGGAGGATTCTGTAGTTAACTAAAGTTTTGGAAATACTCTTAAGTATAGCTGAATAAGTTTATTGACCACAAGCTATTTCAGAATCCTTAATTTGCTAATGTACATTGTAAATCATCCAGAAAGGAATATAATATGCAGTATTTCTTAAACATATCTAACCATAGAAACTCCGCCTCCCGGCTTTCTTTTCAGATGTCTGGTCACTTTTTTGACTCTAGTATTTCTGAGGAACACAGGCTGAAAAAACATTCATAGCGCCTTGTTTCCCAGTGGCTGGTCTTCTGCCTCAGAATCAGCTGAGAGCTTGTTTAAGAAAGCACACTTTTGGGTCCCACTTCAGACCTGTTCTGTACCCAGGAATCTACATGCTAATAAGCATTAGGGACAATTGGTGTGCATCCTAAAAGCAGTGACAGGTTAGAGAGAACTGTGCTAGAATTCTAGCTGTATTACTTAATAGTTATATACCCCTGGACAAACTAAGGGCTCTGAGCCTCAGCTTCCTCACCTGTATAAAGGGAGAAATAATACCTGTGAAAAGGGCTAAAATGAGGTTAAAATGCAGGGAGCCTGGCGTGTTGCTAGTGCCTAGTACATGCCAGTGTCTGGTGGCAGCTCTTGCTGCCGTGACTGCTCTCATGATGCCATGCTGCCTGGGCTATTCCTGGAGTGAAATACTGAAAAGGAGCACAGAGAGAAGAGTCTGGAATAGAAAAAGAAATGTTGTTTTTTTTTCCTACCATACCCTTGTCCGCCTCCTGGTCTCAGGTGTTCTAAGAAAGGAAACGAGTTGTTTTAAAGCATCTCAGTCAGTGCTGCCTCCCCTCCACCCACTACATAGCTTTGGAGGATTCCAGCCTATTGTTAGGAGTCAGAATTCCTGTAATTTTCCACTGCTTCCAGTCCAGGGTACCCAAGCAGGGACTGGGTATTGGAGTAGTAAAATTCAAGCACCCTTTGGTCCTATGGGGGAACGAGCTTGGTGGATTTCAGTGCTTAAGAGCTTAGTTTTTGAGGCCAGAGAGAGTTGATTTCAAATCCCTGCTTTGTCACTCCCTTGCAGAAGTTTGTTGCAAAAGTCTGAGACTCAGTTTTCCCTTTTTTGAAAAAAATTTTTTATTTATTTGTTTATTTTTAAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCCACCTGCCTCAGCCTCCCACAGTGTTGGGATTACAGGCGTGAGCCACCACGCCTGGACTAGTTTTCCCTTCTTTAGAATGGGGTCATAATAGTATCTACCTCAGAATTACTCTAAAGATTAAATGAGAAAATCCACGTAAAGTGCTAGGTATGGTGTTGGGCATGTAGAATACTCCAAGTGGAGGAGTAATGCAGTTATGCAGATTGAAGAGGCAATGTGATAAGTATTCAATGGGAGTAAGTGTAAGGTACAGCACGGGAGAGTGAGATACCTAACTCAGTCTAGGGGTGCATTTTTAAAAGAGGTGATATTTAAGCCAACAACTGAATCACTGGTAGAAATTAGCTGAGTGAAGAAAGGAATGCTATTCCAGCAGAGGAAATAGCTGCACAAAGCCCATGAAGCAGGTAAGACAGCCTAGTATTTTGGAGGAACTTTAAGAAGTTCAGTGTAGTTGTAGTGATGTGGGGGAAAGGGGTAGGAAATAAGACTAGAAAGGTAAGCAAGGGCCAGATCCCAAAGGGCCTTGTATGCCTTTTTGGGGAGTGTGACTTCATCCTAAGAGTAGTGAGGGAGCCAGTGAAGTGTTTTGTCCCATTTGTGCTTTGGAGTGCTTACTGTGGGGTGCTGTGAGAATGGATTGAAGCAGGAGAGACAGGAGGCAGGGATACCGGTTTTGACGCTATTGAGGTAATCTAGGCTAAAGAGAACTGTGACCTGGTAGAGGAGATTTGAGAAGCACTTGGGAGGTAGATTTGAGAAAACTTGGCCTTAGGTTTGGATGATTAAGCAGAACGGAGCTCCATTCACTGAGATGAGAACACAGGGAGGCATGGGTTTGGAGGGAAGGTCCAGTAGGCTGCTGGATATGTGGGTCTGTAGCTCAGGAGTGATGAAGCTGGAAAGATTTGAAAGTGTGAGCACAGAGGTAATTGAAGTCTGGGGATGGTTCTTGGCTCATTGTTTATTGGTTGCGTGCTTCTCTCCTATTTCAAGTGGCTCTGCTGGTGAATGCTTGAACTGTTCCTCTTGTCTTCCTGTGATTGTTTAACCCCTTAGTTTGGGCTTCCCACCTCCTCCTGTGCACTTGAAGGGTAGCTCTGGGGTACAAACTTGTCTTTGCAATGCTCCCTCCTCCATTCGTCATCAGGGCTCAGCTTGGAACAGCCGTTGATACCTTTAAGCTTCACAGGGGTCTTGAGGTTAGAAGACTTGAGTCCTCAGAACTGGAAAGAAAAAAAAAATACCGGACTTTCTGAGGTGGTTATTTGGGAGGAGGTAAGCTCCCTACTGCTTGCGCAAGTGCAGGTAGAGATTCCAGGTGGTTCTGCAGAGATTCCATTATTAACTGAGAGGTTGAACTGAAGAGTCTTTGGGGTGTCTTCCAAAATGTGGCTTGGCTCTCAAAGTGACTCTAGGTGCTGGGACGAAAAAGAATGAGATTTTTCTAAGAGTCCCTGATTTCTGGGCTTGAAGGCTCTGAGAGATCACCCAATCCAGCCTTCCCCTCTACCTCTGTCCACAGTAGAAATTCATTATATTTGACAAAGACATTTAGCACAGTCCCTCACACAGACACATGCTAGGCACTCACTCATTTATTGAGTGAACAAACAGAAGGGGGTAGTGTAGAGTCATGCAGACCCTGACTTGAATCCCAACTTGCCCATTCTAGCTGCATGATCTCAGGCATGTTATTAAACTCTCTGCCCCTTAATTTTCTCATCTGCAAAATGGAGATGACACTGTTTACCTCACAGGACTGAGGATTAGTGAGAGCTGGTTGAACTGGAAGCACCTAGCAGAGCCTCAGTAAATGTTTGTTGCCCCCAGTCCCCCCAGGGCATCAGATGTAGCTTATTTGCAATCAGCCAGAGCCCTAGAGATAGTTTTTCTGTGTTGCTTCAGAAGCTGCAGTTACTGAACTCTTCCTGTCCTTCCCCTCCACCTGCCTTCACAATCCTGTTTATCAGTATGAAATAACTCTTGGAAAAACTCTAAAAAGGGCTGGGAGCATGGAGTAGTGTAAAAGAACGTGGAGTCAGGGATGCTGTTTTTCATTTCTGGTTCAGACCTTTGCTAACAACTCAGTGACACTGGGTGACCCTCTGTGAGGTGGGGACCACCTCATCTTCTTCCCCAAACTTCCTGTGCAGCCTGCATTCTGTCTCAGTTGGCTCCACCTCCTTCATCTTGTGCAAAAGCTAGAAACCCGAGTCATTCTGAACACTTTCCTCACTCCTCCTCCATCTCTTTCCTAATCTAATTAGTCACCAAGTCATGTCTGGTCTATCTCTGAAATAGCTTCAGAATCCATTCCGTTCTCTTCATCCCCAAGTGTGCTGTCTGGTTCATGCCCTGCCTGCCCAGCACCTGGGCTACTGCCTCCCTCACTGGCTCATCCTCCACACCGCCGCTGGTTACTTCTCTAAACAAGGTTCTCATCACGTTCCTCTCCTATTGGAAACCCTTCTATAGTGCTCTGTTTTCTCCGGCATAAAGCCCCAACAAAACTCTTTAGAGTGGTGTTCATTTGTCCAAATATTTGTGGAGGCTTGCAGGTGCCAGGCACTGTGCTGGGCCCTGGGGTGCCATGATGAGTGAGGCGCAGTGTCTGCCCCTGGGGAGCTTACTGTTGGGTGGGGGAGATGCTAGACAGAAACTACTCTTAGACACTGATACCTCACGGCTAACTGAAATGCAGGGGGAGAGGTGCTTGGTCAACGAGTGTATAGAGGGCCTGCCTTTCTGGGTTCACACTGCATTCTTGGCTCTGCGGTTTAACTCATTCCCTGAATGCACTATGCTCACTCTTAAGTCTGTGCGTTTGTCTTTCTTCTCTCTTCTGTCTGGAGTGTCCTTCCCTGCCTGCCTTTTGGAAAATGTCTATGCATCCTTCAAGGACCATTTCCAATATCACTGCCACTTCCTCCAGGAAGCTTTCCTTGACCCACTTCATACATTGTTCATTTATTCATTCTGCAAACAGCACAAATTCCTCCATCTAAGCTTCCTTGATAGCACATAAGTAGATTTTTCTGATGGCACTGATCAGATTGTATCACAATTATCTGTGGGCCCCTTAAGGGCAGGACTTCATTTACTTGTGTCCTCAGATCTACTACAGAGCCTAGTACAATATTGTCACTCTGAAAATGCGTGCTGAATGAAGTCCTTTAACAGCTCCGTGGCTTAGTTTCTTCATCTGTAAAAGAGGGCAACTAACATCTTCCTTTTTTCTGTTAGGAGGCCATTGGCAAGATTCTGCCTGTAGTGTTTGTGTTTGTGAAAGTACTTTGTAAACTACAGAGGAGGTCTTCAAATGCAGGACAGAAAGGAAAGGGTTTAATTGCTGCCAGACTACAATAGCCAGAAGGGCAGGAGACCTGCCTGGCAGCACCTGCTTTGTTGGCCTGGGGATGTTTCCTAGGTGGTTTATAGGTGGTTTCCTAGGTGGGTTTTCCTAGGTGCCAGGTGCGGTTTATAGCTTTGCTCACAGGGCTTATAGTGGGGCAGCTACTTCTGGCTTCGTGTCTGGCCTGTTCTTTGGGTGTGCCCAGATTCTGCAGAGTTCCCACTCCCTTTCCATCCTATGCTGGAATCCTGAGCCCTATTGCTTAATGAAGGAGTGTTGTAGCAGGAGGCAGGGGGAGTCATTGGGTGCAAGGGAGTGGTCCAGCCTTGTCTCTTCCTCCAGCTCACAGCATTACTTGGGCAAGTCCCTCCCTCCCTCCCCCATCTGTAAAATGGGGGTTAGGTTAAGTGACTTGTCTTCTGGGTATTTCTCTTGTCACACCTCTCCAACCCCTTGGGAATCCTGTTCGTTCTCTAAGTCCTAGCTCAAATGCCACTCTCATGGAAACACTCCCTGATTTTACCCTCCTTCCTTTGCAGTCCTATGGCACATGACTTATGTCTCCATTTCAAACACCTGTTTTCCTTATGCTGTTTTGTTAGACGTTACACAGTGTCTACATGTTAAGTCTTGTTAACTGTGAGTGCCTTCAGATTGCTTCACTCTCCTTTATACCCCACCCCGCACAGTTCACCTGGCCCAGGACTTTGCTGATAACAGTAATTAATATAGCAATAGCAGCTATGACTTACTGATCATTTGCTTTATGCCAGGCACTGTTGTAAAAACTATTTTTCTTATGTGAGTGGTTTTCAGACTGTCTTTTCAGTCACTGTGAGGGGTTTTCAGAGCCCCCTCAGAATGTAGCAAGGGAGGGGGTTCCATATTGTAGGGGCTCTGGAGCTCCCACCTTACTTCAGCCAGAGCAACTTTCTTGTATTTGTTTTATTTATTTTATCAAAGGATTCTTTCTTTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGGTCTCCCTCTGTTACTCAGGCTGGAGTGTTGTGGCACAATCACAGCTCACTGCAGCCTCCAACTTAGGCTCAAGTGATCCTTCCGCTTTAGCCTCCCGAGTAGCAGGGACTACATGTGTACCACCATGCCCGGCTGATTTTTAAAAATTTTTTGTAGAGGTGGGATCTTACTATGTTGCCCAGGTTGGTTATCAAAGGATTCTTTAGCTAAAAATTAAACTGACAGAATTTTGCTGCATTTATTTTTTATAATCTGCAGAACAGTCCAGTGAGGAAGGAATTGTTCTATTTGTGAGGAAGCAGGCTCAGAGAGATGAAGCCACGGGCCCACAGTCATGAACTTAGCTGATGGGAGCAGAGTTTTAAATTGAGATCTGTGTGAGCCATTCTTGTCTGTGAAGGAGTCTTGCTAGTAGCTATGACAGCTTCTAGGGTAGAAAAGCTCCCAAGGATTGCTGAGTGGGTGACAGGGCCTGCTTCCTGCCCTCCCCACAAAAAAACCTCATGAATTTGGCCTTAGCCTTAAGAGTAATTATTTCAAGCTATCAAACACAATAAAAAGAGAAAGCCCAGGCTCTCAGTGGCTTGGCCACTGGTGCACTTACAGGTTGATCTAGAACGTATCTAGATGGTGCCGTTCTCGGAGCTGGGCCTAGCTGCTGTCTGTGCCCTTGAGCTCAGCTTGTCTGCAGATGTGTTGGGGCTGTGCTCTGCTGGGTCCTGTGCTAGCCATTTAGGGAGATGGAGCGGAACACTCCGAGGGCTACTGGTGTGGGAAGATGGATGAGAGAGGGAATGCCCCCATGTATGCTCTAATGCACAAATGCCCTGGACATAGAGCCAAGAGACCCAGGTTCTGGTCCCAGCCCCTCCACACAGCCTGTGTGTGACTTTCCTGGACTTGAGTCTTGTCCTCTGTAGGAGGCTATTATTAATAGTGTTTATTGAGTGCTTAATTTGTGTCAGGCCCAATGTCAAAGGGCTTCACATAGCTGGCCTCATTTCATTCACAAACTAACCTGAGAGGTAGCTATTATTATTCCCATTTTATAGCAGAAGATGTTGAGGCTTAGAGAGGATAAGTCAGTCCAGTTAGTAAATGGCAGAACCTGAACTTGAACTCTTGAACTGGTTGTTTTTTGTTTGTTTGTTTGTTTTGAGATCGGATCTTACTCTGTCACCCAGGCTGGAGTACAGTTGTGTGATCATGGCTCACTGTAGCCTCGACCTCCCCAGGCTCAGGTGATCCTCCCACCTTAGCCTCCTGAGTCATTGGGACTATAGGTGTGCGCCACCACACCTGGCTAATTTTTGTATTTTTTAAATAGAGATGTAGTTTTTCTATGTTGCCCAGGTTTTTAGTAGAGATGTTGTTTTTCTGTGTTGCCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAGTCTGCCCGCCTCAGACTTCCAAAGTGCTGTGATTACACAGCTGTGAGCCACCACGCCTAGCTGTTGAACTGGCCTTTGAAAGCATTGTATCGTATTGCCTTAGGAATAGGGTCTCCCCTGCCTGCCTCACAGAGTTGTGAGTGAGGATAGGGAAATGTTTTTACATCAGGGTAAGGAAGACATGCTGTGGATGAATCCATGCTATAGCTATGTCATTTGTGACTGATGAGGGTCAGGGGTGTGTGTTAGAGACTGCGTTTGCCCCATGAGTTCTGCAGATAGAGATGGGAGTACCACAGGATGGGCATTTGGAATTCTGTTTGATTCATTTGCCTATTCATTCATACAGGAAATATTTACCAAGTATCCATTCTACACTGGGAGCTGGGGATAAAGTGACAAACCAGACAGGATCCTAGCCCTTGTGGAGCCCCTTGATGTGCAGGAAAGGAGAGTTAGGAAAGGAGGATTTCAACCCTGACTCTGCAGGTCATTGGCGGGGTGACTTTGGGTAACTCGTTGCTCCTCTGGAAGCCTCAGTTTGCCCATCTGAGCAGTGAGATCATAATTCCAACCCTACCTATAGGATCAGTTGAAAGGATGGTGGTGGAAGTGCTTTATGGTTGTAAAGTGCCATACTCTGCCTAGTTTCTGGCCTCATCATTCTGACTGATATCTTGCTCTTCCTGCAG
Seq C2 exon
GGCTGCCCAGGAGCTGCAGGACAAGCACCAGGAGCCCCTCCGGGTAGCTACTACCCTGGACCCCCCAATAGTGGAGGGCAGTATGGTAGTGGGCTACCCCCTGGTGGTGGTTATGGGGGTCCTGCCCCTGGAGGGCCTTATGGACCACCAGCTGGTGGAGGGCCCTATGGACACCCCAATCCTGGGATGTTCCCCTCTGGAACTCCAGGAGGACCATATGGCGGTGCAGCTCCCGGGGGCCCCTATGGTCAGCCACCTCCAAGTTCCTACGGTGCCCAGCAGCCTGGGCTTTATGGACAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162517-PEF1:NR_033688:1
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=1.000
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
PF134991=EF-hand_7=PU(1.4=1.0)
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)