Special

HsaINT0132632 @ hg38

Intron Retention

Gene
ENSG00000196504 | PRPF40A
Description
pre-mRNA processing factor 40 homolog A [Source:HGNC Symbol;Acc:HGNC:16463]
Coordinates
chr2:152659270-152662698:-
Coord C1 exon
chr2:152662603-152662698
Coord A exon
chr2:152659357-152662602
Coord C2 exon
chr2:152659270-152659356
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:ENST00000410080:21
Average complexity
IR
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