HsaINT0122959 @ hg19
Intron Retention
Gene
ENSG00000162517 | PEF1
Description
penta-EF-hand domain containing 1 [Source:HGNC Symbol;Acc:30009]
Coordinates
chr1:32098760-32101123:-
Coord C1 exon
chr1:32100823-32101123
Coord A exon
chr1:32098916-32100822
Coord C2 exon
chr1:32098760-32098915
Length
1907 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
3' ss Seq
CTTCACACCCCTTCCTCCAGGTG
3' ss Score
9.39
Exon sequences
Seq C1 exon
GGCTGCCCAGGAGCTGCAGGACAAGCACCAGGAGCCCCTCCGGGTAGCTACTACCCTGGACCCCCCAATAGTGGAGGGCAGTATGGTAGTGGGCTACCCCCTGGTGGTGGTTATGGGGGTCCTGCCCCTGGAGGGCCTTATGGACCACCAGCTGGTGGAGGGCCCTATGGACACCCCAATCCTGGGATGTTCCCCTCTGGAACTCCAGGAGGACCATATGGCGGTGCAGCTCCCGGGGGCCCCTATGGTCAGCCACCTCCAAGTTCCTACGGTGCCCAGCAGCCTGGGCTTTATGGACAGG
Seq A exon
GTAAGTAGTAATCTTGGACTCCGGGTACCTCTGACGTGGTTCTGAGTTATCCATGGCCAGCCTTTGTCCTTCCTGTGGGTGTGCAGGCAGCCTGGTCTCTGGCACCTTAGCATCTTGCTTCCAGCTTCAGTGTGTATCCTCAAAATGATAAGTTTGTCAGCTAGTTTTGTTGCAAGCATTTATTTGTATTGCTTGCTCATGCTTACTTTCTTTTGCTTACATGTCAGCAGCTGTTAGCTGGCTGTTGAGTTTCTGTTCCCTGTGTCTTTTTCATTCAGGGATACATGCTGAAGGAGCAGCTCCTGTTTGGGATATGTTATCTTTGTGGCAGAGAGAAGGAGCAGGAGAGCTAGCAAGAATGCACAATGCCTCTTAAAGCTTCTCTGAAGTACTGTATGTCTTGCCCACTTGCATTCTTTTGGCCAGAGCACCCCCTGATCAAGACTGACATCAGTAGGATGGGAAAGGATGCCCCTCTGCAAGCCACCAGGCAGTGGGAGAGGATGTACAATGCTCTTATAGGGAAGGGGAGATTAGCAAGTAATCTAATAATAGATTATTGAACTGGCCTTTTAAACCATTGTACCATATTAGTACAATGTCTGTGGGTGTGCAGACTGTGTCTCCTGGCTAGAGATTATTAGCCAGGAGACGATAATGTAGCCTACCATGGGGAGAAACTCAGTTTAAATATCCGTTTCTCTGTGAAAATATCTCAGAAGACACACATTCCAGGCTCTTTGCTGAGGATTTTATTTTGCTGTTATCTCATTTAATCATCACAACAATTCTGGGGAAATGGGTTCATTTTAGAAATGTGAAAATCATTACTCAGAAAATTGTACATTTTGCCTAAAGTCACACAAGCTAGTAAGGATCAGATCCAGGGTTTGAATCCAGGTCTGCTTTGATTCCAAAGCCTGAGCCCTTCTATACAAACTACACAGTTCAAACATGTCACAGAATCTCTCCTGCCCTGGGGCTGTGGCCCTTGCTCCCCTATGACACCGATGTTTTAGGAAGATGGCTAGAACCTGCCCGGATTTTTCCAAGGAAGTCAGACTAATCCCTAAGTCAGGCATACCTTTTTCCCTCTGTCCTTACTGGGCTTTGGTACTAGGCAGTGGTTTCTGTCCTCCACAACTGCCCATGGCTGTCTTTGTGTGAAGGGACCCCGATTGTGGCCAGTTAACTCAGTGTCCTAAGGTAGACAGACTTACCAGCTTCTACACTGTTTTTTTTGGGTTTTTTTGTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTCTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAAGCTGGTCTCAAACTCCCGACCTCAGGTGATCCGCCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACTGTGCCTGGCCACTTCTACACTTTTATCTACCACCCATTCCCCCATCTCGCAGTTTACCTTTTCCAGAGAATTCTTGAAATGCTACAGGGGTACAGGTCCCCGTTCCTTAAAAACATAAAATCAATTAAGAGTAGTGTCTGGAACACTATACGAGAACTCCAGAGGACTCATGGAATAGAAATCAACTGCAAATACTCATGAATCTTCACTGAAGGTCCTCTTCCATCAGAGTAAGAATGTCAGCTTGATGGAAGACAGGGAAGGTGAATTTGTGAAGCTTCGTGTGTAGGAGAAACCTGTAGCCAGGAAGTTACTGAGGCTGGCCCTTCCTGGCATTTCTGTTGATGGCCTTCACACCCCTTCCTCCAG
Seq C2 exon
GTGGCGCCCCTCCCAATGTGGATCCTGAGGCCTACTCCTGGTTCCAGTCGGTGGACTCAGATCACAGTGGCTATATCTCCATGAAGGAGCTAAAGCAGGCCCTGGTCAACTGCAATTGGTCTTCATTCAATGATGAGACCTGCCTCATGATGATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162517-PEF1:NR_033688:2
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.189
Domain overlap (PFAM):
C1:
PF134991=EF-hand_7=PU(1.4=1.0)
A:
NA
C2:
PF134991=EF-hand_7=FE(71.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAGGGCAGTATGGTAGTGG
R:
ACCAATTGCAGTTGACCAGGG
Band lengths:
350-2257
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)