Special

HsaINT0122510 @ hg19

Intron Retention

Gene
Description
pyruvate dehydrogenase kinase, isozyme 1 [Source:HGNC Symbol;Acc:8809]
Coordinates
chr2:173426948-173429415:+
Coord C1 exon
chr2:173426948-173427019
Coord A exon
chr2:173427020-173429230
Coord C2 exon
chr2:173429231-173429415
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-PDK1:NM_002610:3
Average complexity
IR-S
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


Main Skipping Isoform:


Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
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