HsaINT0122531 @ hg38
Intron Retention
Gene
ENSG00000067992 | PDK3
Description
pyruvate dehydrogenase kinase 3 [Source:HGNC Symbol;Acc:HGNC:8811]
Coordinates
chrX:24503327-24505298:+
Coord C1 exon
chrX:24503327-24503511
Coord A exon
chrX:24503512-24505208
Coord C2 exon
chrX:24505209-24505298
Length
1697 bp
Sequences
Splice sites
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
3' ss Seq
TTCCTTTTGTGTTCGTCTAGCAC
3' ss Score
7.56
Exon sequences
Seq C1 exon
CTTTCTACAAGTTCTGATTAAAGTCAGAAATAGACACAATGATGTGGTTCCTACAATGGCACAAGGAGTGATTGAATACAAGGAGAAGTTTGGGTTTGATCCTTTCATTAGCACTAACATCCAATATTTTCTGGATCGGTTTTATACCAACCGCATCTCTTTCCGCATGCTTATTAATCAGCACA
Seq A exon
GTAAGTTGGAGTTTGTTGGTCCAGTTTTGAAAAGGTAACCATAGTGATTTCTCCCAAATGTTTTCCTGTTGTTAATTTACTGACCTGCATTTTTGGTTGTAGAAATTTCATTTCTAGTTCGGTTTTTCCTAAGTGAATCCTAGCCATTACAAAGCTATTAATTTGTATTCTTGGTTAAAAGAAATGTTTGAAAGGCTTTTATGAGGCTCACATTAGAGACAGGACCACTGCCTACCTTTTAAGTCTCTGCTGATACAGTCTTGATGGGGATGAGGGACCGCCTTTAATGGCAGCCGGCCTTCATCTCTGAATACTTTTATGTATCTCAGATTGTATTATTTTCTTTATCCAGGATATTATGTGTTTTCCTTTTTAGTTTTAAAAACATTGACACTGGAAATATTGAATTGGATGTTGGTGATAGGAGCCATCAGTTCTTTATTTCACAGTGATCAGTGAAGTCAGATTAAGCCAGACTGTCAGTCCATAATCCCGTATTGAGAGTTTTAGTCTGCTCTTGAGGGTACTAAGCAGATATGAAAAAAACAACTAAAATTCCCTCCACACAAAAAACTTTTTGGCTCATCTTCAGCACTGTCTCTTTGGCTGATTTTATAATCCTTGAGGAAAAGCATCCACATGTCTAGAGCATAATTCACCCTGTTTGCTGCATCACAAAGTGGACAAACCATCTTTATTTTAGTAATTTGATTTATTTGGATAACTGAATGTTATAGAACTATTAAATGTGGCCTTATATTAAATGTATATCTTCAAAATGGAAATGTATGACAATTTACAGGAATAAAAGAGCCTAAATACTGTTCAACTAAACTACTTAGATAACTCCAGTTGCTTTCTGATCTAAATACACATGTACACATATATACGTGCATGTTTTTAGATCATTAGTTAGGCCTACACATCTCTGTTTTTCTTCCCCTTAATCAGTTCGAACTTTATTAATTAGCCTAATGCCTGTATTTATCATTTTTCATAGTTTAAAATATCCCCTATTTTATTTAGGCATCCTTCTTTTGTTAGTCGCAATTTTTGCTTGATTTAAAAATAAGAACACCTATAAATATTTGGATGCAGATTGCTTTTTTCTTTGGGGCTTCTTTTGGCTTTTATTCAGAAACAAAATTTTGCAAATCTTGTATATTGTGAAATTATCTGAGTGTATTTTTAAAAATACTTGAACAAGTATTGTTTGTGTACACAACATTGAAACATAATCTCCATGGGGGAGGCATCTGAAATGCTGCCAGCGAAGACACTTTGCAAGCTTGTCCAAATGGTATAGACCACATGTTCTAAATATTTAATGAAAGTTGGAGTTTGTGTCTGGAGTAGTACTAAGAAGGTGGGTATACTTGACTAAGGATGAAAGTAAGTTTCTTCATCCATGTCACATTGGGAGAGGAAGAACGGATTGGGCACCTGGCACGTGTCACTGCTTTAGAACCTGCTGACTGCAACTGACAGACCTTAAACCACATCCTCCTCCTTCATTGACCAATAAGAGTTGTTCACCCATCAATTGTGTGTATTCCATTGCTCTAAGTTGCTGTGGATGCTAAAATGATTTTTACACATAAGATATCCTTTCTAAACATAAGCCCCTATATTTCCCTGTGTGACCATCCCAGCCTGCTGTGTTTTAATCCCCTCCCTTTCCTTTTGTGTTCGTCTAG
Seq C2 exon
CACTTCTGTTTGGGGGTGACACTAATCCTGTTCATCCTAAACACATAGGAAGTATCGATCCCACCTGTAACGTGGCGGATGTGGTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067992:ENST00000379162:4
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(37.6=100)
A:
NA
C2:
PF104364=BCDHK_Adom3=PD(12.1=64.5)
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:
AAAGTCAGAAATAGACACAATGATGT
R:
TTCACCACATCCGCCACGTTA
Band lengths:
254-1951
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