HsaINT0122510 @ hg38
Intron Retention
Gene
ENSG00000152256 | PDK1
Description
pyruvate dehydrogenase kinase 1 [Source:HGNC Symbol;Acc:HGNC:8809]
Coordinates
chr2:172562220-172564687:+
Coord C1 exon
chr2:172562220-172562291
Coord A exon
chr2:172562292-172564502
Coord C2 exon
chr2:172564503-172564687
Length
2211 bp
Sequences
Splice sites
5' ss Seq
TGAGTAAGT
5' ss Score
8.82
3' ss Seq
TGACAGATGGGTTTGTTTAGCTT
3' ss Score
1.15
Exon sequences
Seq C1 exon
GTATATCCAGAGTCTTCAGGAGCTTCTTGATTTTAAGGACAAAAGTGCTGAGGATGCTAAAGCTATTTATGA
Seq A exon
GTAAGTTCACTATTTTGACCCTATTCTTAAACCTATTATTAGGTCACTTGGGGGAAATTGGTTAACTTTTAGGTTTCTACTACTTTAGAACATGTGATATATGTGACTGTAGCAGCCCATACAGGCAGGACAAATAACAATCAGCAAATTTGACTAGGCATAAGAAATGCTTCGTGTTCCTCTTTAACAAAAGACAAAGTTCAGGTGTGATGATCAGTGGAAATGTAGGTGTGGCCTCAGTGCCAGTTGGACTGTTCACCTGGAGGGTGCATGCTCCTTCTAATGGACAACCACCTTCAGCCCCAGCTGATCTTTGCCATATGAAAATACTGCCCATATCATCTGATTGTTTTCTGATTTTAAAGGAAAGCTACAAGTCTAGATTTGTAATGTAAAATCTCTCACTTTTGAAAGATTGGTAACTAATTAAAACATTTTTTAAAACACAGAAGGCCTAGAAGAACATGGTTGCAGGTCTCTAGTTTATGCTGTATGGCCTGCAAGATGATGTAAGTAATATGACAATGTTAATAACCCATATACCAGAATTGGTAAACCAAAGTATTTGCCTTATGCAGCTACCTGCTTATTGCAGTGAAGGGTACTGAGAGTGTAATGACCATCTCTTGTCCTCAGTTAGTTACACATGTTTTTTGGACTGTCTTTAAAGTGAACAGTAACACTTCATTTTTTTAAACATGATTTTAATCTGAAAATAACTTCAGCAAGAGTTTACTCCTTGCTTAGGTATTGAGCAGACTTTACATGAATGATGTTTTTTAATCTTTAAAACAATTCATTGAAATAATGCTGTTTGTGCACAAAGAGGGTAAGTAGTTTAAGGTTACATAGTTAGCAAATGGTAGAATCCAAGCAGTCTTACTTTAAAAGTAAACATTATGTTATAGAGCCTTCTGAAAACAGTCATTCAGAGCTGTGGAAAATAAGTAGTCAAGCAGAATAATACAGATTTGTGTTTCTTTGAAGCAGAAAGAAAATAATAAAGGAGTGACTAGAATGATGAGTTGTTTGTTGTTTTTGAAGAGTTTTGTTGTTTGTATTTTAGTTTAACAGTCTTGTTTTGAAGCGCATTACTAACTAGGAATTCCAAAAATGTTTTAAGCAGTGGAAACATCATTGGAATAAGTTAATAGTACTCAGGATGATGACTTTGAATAGGAAAGCACTCATTTGGAAGTGTAAATTCAGATGGGTTATGTTAGAAAATTGGTTTCGTTACTGCATAATTAAGACTTCTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCGTCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATCATGGTACATGCCTATAATCCCGGCTACTCAGGAAGGCTGAGGCAGTAGAATCACTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCTCTCCAGCCTGGGCAACAAGAGCAAAATTCCATCTCAAAAAAAAAAAAGACTTATTTTCTCTTTTATTTAGTTATTTAACCATGCAGTGTCTTCTAAGTGACAGAGATGGGAAGACTAGATGATTTGAAGATTTGTCTTTTAATATAATTGTTTACTTTTCCTCTCCCATTTTATAAACTCATAGGATGAGTGAAATGAGAATTCTTTTCTGTTTTTCTGTCCTAAGTGTTTCCTTCTCTCTTTGAACCCTAGGGAATAGGTCCAAAACAGGCAGGCTTTATTGGCTCATTCATCTTGATTCCTTGCAGAGCAGAGCAGGTGTTCTCTAGAGGCAAGTGCTTTGTCTCCTCCTATGCAGAATGTCTCTGGAATACCATCCTCTTAGCCAGTGCTCAGATGACCTTAGTTGATAACAGTTAAAACCATTAACATTTTTTGGATTACGTTTTGTGGCAGCCTTACTCTTAGGAAGCCAAGAAAAGAATTAAATCTTGAAAGTTTTATTTTGGAGGTCTGTATACTTTCATAGATTTGGTATATTTTATGATCTGAAATACATTTAAATAAGTATAGGAAAACATGAACCGATTTTCCTTTTATTAAATTGGGGATTTTTTGTCTAGCATAGTTGGTTAAGCTTATATTTTTGTATTAAGTTTACTTGTCAAAATATTTGGCTGTTTTGACAGATGGGTTTGTTTAG
Seq C2 exon
CTTTACAGATACTGTGATACGGATCAGAAACCGACACAATGATGTCATTCCCACAATGGCCCAGGGTGTGATTGAATACAAGGAGAGCTTTGGGGTGGATCCTGTCACCAGCCAGAATGTTCAGTACTTTTTGGATCGATTCTACATGAGTCGCATTTCAATTAGAATGTTACTCAATCAGCACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256:ENST00000282077:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF104364=BCDHK_Adom3=FE(14.4=100)
A:
NA
C2:
PF104364=BCDHK_Adom3=PD(8.3=7.9),PF104364=BCDHK_Adom3=FE(71.3=100)
Main Inclusion Isoform:
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