HsaINT0122513 @ hg38
Intron Retention
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase 1 [Source:HGNC Symbol;Acc:HGNC:8809]
Coordinates
chr2:172566856-172568817:+
Coord C1 exon
chr2:172566856-172566933
Coord A exon
chr2:172566934-172568740
Coord C2 exon
chr2:172568741-172568817
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:ENST00000282077:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.048 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