HsaINT0122513 @ hg19
Intron Retention
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase, isozyme 1 [Source:HGNC Symbol;Acc:8809]
Coordinates
chr2:173431584-173433545:+
Coord C1 exon
chr2:173431584-173431661
Coord A exon
chr2:173431662-173433468
Coord C2 exon
chr2:173433469-173433545
Length
1807 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGC
5' ss Score
9.26
3' ss Seq
TTTTCTCTTCTGCTCTGTAGCAA
3' ss Score
8
Exon sequences
Seq C1 exon
ATGGCTATGAAAATGCTAGGCGTCTGTGTGATTTGTATTATATTAACTCTCCCGAACTAGAACTTGAAGAACTAAATG
Seq A exon
GTAAGCCTGATGTTGTCTTTTTCTCAATAATTAGTGCTTTGATTACTTGATAAGGGATAAGAATTTAAATGTTTTAATGGAAGATGACTTTTTATCAACTTCGTTGGATATGAAGGCTAAAGGATAGTAATCATGTAAAAAATATATCTATAAACATATGTAATTTAGTCAGATTCTTTATGAAAAGATTTGGCTTTTTGTATCACATTTTCTTTATTTTTAATTGATAACTTTGATTCTTTGCTTATTTTTTATTTTCTGTTTAGTCATAGAAAGAAAATGATACCAAGAAAGTTACATTTGACTTTTACATGCACTTCACTAATGTAAGACTTACCCTTTTTCTACTTCCTGAGTTGTAAATAATTTTCTGTTGTTGAGGACATAGACTGGGGTTATAAAAGAGGAAAGAAAGATGCTCATCTATTTGAGAATCTGTTTGTCTCTGATGGTTTTCTTTTTACCCTGATTAGTGCCTTTTGGACAAAAAGGGTTTAGATGCCTTGAAGAGGGATTGATGAGTCTCTTTTTCCTGAAAGCATGGTAGTTTGACAGAAAAAAGCATTTCCTAAGATGACACTTTAAGAAGGTGTGGGAAGAATAAAACAAAATAGGCTTTTACTAAGCTGTATTCTGGACCTTAGAGTGAGAGAGCAGTGAAGTTATGCAATTGAAAATAGCATTGCTTGGTGATTTTCTAAAGCCATATTAACTCTTTTGAGCCATGATGGTAGCATAGCATTTGGTAAATAACAATCACAGTGTACAAGTAAGTGATAGTTTGCAAACCTGAACTGCTGTGAGCAATTTCCAGATGTCCCATTTTTGTTCCCAAGGGGGAGTTTATTCAGAGGAAGGTCTGATTTATTGGTTGAATTAGAATTCTAAGATATCATGAGTCTTAATCATTTGTTCTACTAAATGTCTGTTTTATACACACCCCTATCACCACCCCCAGTGGGGCTCCTATTAAGTGTTTAAATGTAGAATTAATTACTGTCTCGAGAAATTGATGCTAGCTCATATTTTTTATTCAGCTTTATATCCATCGAAATGCCTGAAATAAAACAATATTCCACCCAGGTGAAACATTTTGAAAATGGCTTAAAGAATGTATGGGCTGGGCGCAGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGCTCACAAGGTCAGGAGTTCGAGACAAGCCTGGCCAATATGGTGAAACCCGTCTCTACTAAAAGAAAAATCAGCCAGGCGTGGTGGTTGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAATGTATGCATGCATGTGAATTGGACTGTGGAATTTAAAGATTTTAACACTTCTCTATTTGGAAAGTAAAATTCCTACCCGAAAGTTAAGCGATCTTAAAAAAGACTTTACCATCCTAGAGAAAAATGGGCGCATGGGTTGGTTCGATTGTGATGCAAGATTGTGAGAAGTGACCACAGGACTCTTGTCATCATCAGTTGTAAATATTTGTGGGTATGGGTTCAAACACTAATACATTGAAGAAATGGTGTGGCAGTTCTCCCCCAGGTAATACTGTCCTCCGTAGTTAATGTTTTCTTTTCATCACTACACAGTTTATTCTTAAAAATGCTTTAAGCACATCTCTCTGTACTTTCATATTTTTCTCTTCTGCTCTGTAG
Seq C2 exon
CAAAATCACCAGGACAGCCAATACAAGTGGTTTATGTACCATCCCATCTCTATCACATGGTGTTTGAACTTTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256-PDK1:NM_002610:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.046 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0251821=HATPase_c=PU(11.2=53.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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
- 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)