Special

HsaINT0132632 @ hg19

Intron Retention

Gene
ENSG00000196504 | PRPF40A
Description
PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) [Source:HGNC Symbol;Acc:16463]
Coordinates
chr2:153515784-153519212:-
Coord C1 exon
chr2:153519117-153519212
Coord A exon
chr2:153515871-153519116
Coord C2 exon
chr2:153515784-153515870
Length
3246 bp
Sequences
Splice sites
5' ss Seq
GAGGTAATT
5' ss Score
8.88
3' ss Seq
TTTTTTTTTTGTCCCCGTAGCAT
3' ss Score
11.19
Exon sequences
Seq C1 exon
ATCCGTGAGAGATTTGTAAAAGAGCCAGCATTTGAGGACATAACTCTAGAATCTGAAAGAAAACGAATATTTAAAGATTTTATGCATGTGCTTGAG
Seq A exon
GTAATTTTAGAATTCTCATATACAAAATATATAAAATATAAACAAATTGAAGAACTTAGAATGATGAAAGTATGTTGCTTAATATTCACTGCTTTTATACAAATGTACTTACCTGGATGGTTAGAGAATGGTTTTTTTCCTATAAAAACTGCTTTTAAGTAAAAGAAACTATTAAGTTTCCATGGGAATATAAAGATTTGTATGTGAAGACTGTTTTGTATTTTTAGAAAGTTTTAGAAATTGAGCAGTTTGGCAGCCACATGGATTGATTGACTAATAAAGAAAACTTGAAATTTTTCTTGTAAAGCAGATAGAAGACAGCTTTTAGGCACATTTGAGGTATTATACCACATTAGCTGTGTAGAAAAGAAAGTTTCTGGAAAGTAATGGAATAAATGGTAAGTTTTTGTTAAAATAAGCAATGAAACAATAACATCTCAGGTCACTTTAATAGGTAAGGTTCACTGGGCACGGTGGCTCACGCCTGTAAAACAAGCACTTTGGGAGGCCAAGGTGTGTGCTGATCACCTGAGGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGCGAAATCCTGTCTCTACTAAAAATACAAAAAAATTATCAGGGAGTGGTGGCGGGCACCTGTAATCCCAGCCACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGGGACTCCTTCCCCAAAAAAAAAAAAAAAAAAAAAGTATTTTGATGACAGTTTCAGTTAGGCCCTTGTAAGTATGCTGAATTGACCAATAATTATTGAATAATAGTATTCGATGCCTATGTGGGCCAGTGTTCTAATTGCTTTATGTATATTATATTTATGAACTGAATCCTTTCAATAAGCCTGTGAAGTTAATAGGTGAACAAACTAAGGCAGAGAGAAGTAAAGTGACTTACAGGGTTGGAAGCCGGGCATGTTGACCTTGGTCAGTGCTTTTAACAAGTATGCCATGCTGTCAGTTTTAGAGTAGCTAATACTTTATAAGCTAAAAACTAGTAGGTGCTTAATATTACAGTGTTGCATTGTAAATGGGCATAGGTCACTAAATTGACTATTTCCTATTTCTTGATTTATTGTTCTTGATTAATATAATGTTAACCACAGTTTTTTCTGTACCATGTACTCACGAAGGCCCTGTATTGTTTCACAGCTGCCTCTAGATGTGGTCCTGTTGGCCTTTTTTTTTTTTTTTTTAAAGCGGGGTCTCTGTCATCCATCCACTCCTAGGCCAGAGTGCAGCGGTGCAGTTATGGGTCACTGCAACCTTGAACTGTTGGATTCAAACAATCCTCCTAAGTAGCTGGAACTGCAGGCACGTGCCATCACACTTGGCTTTTTGTGGGGCTTTTTTGGTTTTTGTTTTTATAAAGATGGGATCTTGCTGTGTTGGGCAAGCTGACCTCAAGCAAGTCTCCTGCCTTGGCCTCCTGAAGTACTGTGATTATAGGTGTGAGCAACCATGCTGGGCCTCTAGATCTTTTCTGTGCCAAATGTAGTGCATACCAGAAGCATCTGCATTACCTAGGAGCTTCTTAGGAATGCAGAACCTTAGGCCCCATGGGGCAGAAATCCTGCGTCTGACTTCATTTTAACCAGATTCCCAAGCATTAAAATATACATTTAATTTTGAGAAGCTCTGCTCTAGATAGTGACTAACCTATTTTCCCCCAGTTCAAGAGTCTACAGATTCTTTCATGATCTATACTGGGGGTAAAGTAGTTAGGTGGTAAATGGAGTAAAAATGGTACCATAGGGAAGGGCTGAACACATTCAGATTTTGGGGCCTTAATAATCTGAGGCTTGAGGTATTAAAGAAAGGTAGGTTAGCATTCAGTGAGATCAAAAGGAGAATAGTCCATTCTGAGATCCAGATTTTCCATTTCCACTTCTGTAACTGAGGTAGAATTTATTCTCAAAGCCATAGAAATGTTTAGGGGCAAGGAGCTTGTACTGTAGCACCCCCCATCACTGCTAACCTAGTAATTGTTTTAATAAGTAGAAATCCACAAAGACAGCATATGGATGTCTAACAATGTCTTGTTTGAGGAGGAAGGAAATGGCTCCTTGGGGGAAATGAAAGAGGGGTAGCAGATTTTGCATTTATTCTGACATCAGCCTTATATATCTCAATTCAAGGATGGCTCTCAGGTTGTTCTTTATCTTAGTGCTTGGCCTAACTTGCTGACCAAAGCCAGATTGATTACAAAAACCATGTCTGAGTGTCATTGTATTTGACTGTCATTAAAAGCAGATGTCACTGCATATTACACTTTTCTTCTAAATCACACCATTCTCTTCCTTAAAAAATACTTTTTCAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCATTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTTAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAACAAACAAACAAAAACTTTTTCAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACACGGTGAAACCCTGCCTCTACCAAAAATGCAAAAATTAGCTGGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGCGGAGGTTGCATTGAGCCAAAATCGCACCACTGCACTCCAACCAGGGTGACAGAGCGAGACTTCGTCTCAAAAAAAAACAAAAACAAAAAAAGCCCTACTTTTTCTACTAACAGTTTTTAACATTGTTTTGTTTAGATGTCTAAATGAGTGGGTATAGGATGGGCAAGAAGGAAAAGAAAAAAAAATTGACAATTCTTCACAGTTTCAAGGGATTACATTTCTATATATTGTAGAGTTTTACTCTAAGAACTTACTTCCGTAGCTTTTTAAAGATTCTTTACAGTCTGTCTACAGTAAGTGTAAATTCTTGAAATTTTTTTTTTGTCCCCGTAG
Seq C2 exon
CATGAATGTCAGCATCATCATTCAAAGAACAAGAAACATTCTAAGAAATCTAAAAAACATCATAGGAAACGTTCCCGCTCTCGATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504-PRPF40A:NM_017892:21
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.188 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0184614=FF=PD(50.0=81.2)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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