Special

HsaINT0132626 @ hg38

Intron Retention

Gene
ENSG00000196504 | PRPF40A
Description
pre-mRNA processing factor 40 homolog A [Source:HGNC Symbol;Acc:HGNC:16463]
Coordinates
chr2:152664138-152669270:-
Coord C1 exon
chr2:152669137-152669270
Coord A exon
chr2:152664253-152669136
Coord C2 exon
chr2:152664138-152664252
Length
4884 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
3' ss Seq
AATATAATTTTTCTCCCTAGATA
3' ss Score
9.9
Exon sequences
Seq C1 exon
ATATGGACAAAGAAGATGCATTAATTTGCTTTGAAGAACACATTCGGGCTTTAGAAAAGGAGGAAGAAGAAGAAAAACAGAAGAGTTTGCTGAGAGAAAGGAGACGACAGCGAAAAAATAGGGAATCTTTCCAG
Seq A exon
GTAAAAGAAAAAGCTCTCTTTTTAACTTAGTTTTATATTATATTTACTGAACTTTGACAGTGATACAAAGAGTTTTGAGACAACTGTTCCCAGATCATAGACTTAGGCTTTGTGAGGACTCATACACATTTAACTCTTTAAGTTCTTCAGATGAACATTGGTAAATGAGGTTTCGGTTGGGAAAAACAACAGGAGAGATGACTGGAAACAAGATATGTGTGGTGAGTCAGTAGTAGATGATATTTAGTCTCTGGAGGACAAAGGGACTGCTAAGGTATAGTTTGGGGATGGGCCATAATTTCTTAAACACTAAGAAAAGGACCTGGGATTGCATGTTTTTTAGGTAGTAGTTCGTTTTCATCTTCAAGTATCATTTTTATTTTCAGTGATAGAAAATATCATGGAGCAATGAATTTTTTGCATTTCATATCTCACCTATTTCAATAATTATAATAGCTAATATTCTTTGATTGCTTACTGTCAATACAATTTACATTTGTAATCTCAATTTTTATGACAGTCTTACCTTATAAGGGTACTTACTGTTTTTGTTATATAAGTTTATATAACTAAGGAAATGGAGAGGTGAAGTGACTTGCCCAAGTTCAACAGCTGCTGAATAGTGAAGCCAGAATTTGAATCCATGCAGTTTTGATTACAGGGTCTCTTCCATTAACCATTGTATTAGGATAAATGCTAGGTTACAATGGCTTAAATAAGTTTTTTTCTTGAAGTAACAGTCTTTTTGGTCTAGGGCAGGGCATATTGCCATCCCTTAAGGCAGTGGTTCTCAAAATTCAGTGTATCAGAATGAAGTGGAGGATTTTTAAAAAATTTCTTCTGGCCGGGCACGGTGGCTCATGCCCATAATCCCAGCACTTTGAGAGGCTGAGGCTGGCAACTGCTTGAGTCCAGAAGTTCAAGACCAGCCTGGGTAACACGATGAAACCCGGTCCCTACTAAAAATACAAAATAATAATAATAATAATTAGCCGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAACCTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTGCGATGGTGCCACTGCACTCTAGACTGTGCAAAAGAGCGAGATCCTGTCTCCAAAAAAAAAAATTATTCGCGCTATGCCAAAGGTTACTGTGTTAAACGTCACAGCCAGTAGAAAGATTTCAGTCCTTATTCAATGAAAACTTAACATTTACTACTCTTGATAGGTTCCTTTATCTTAGTGACTTTCTAGACTTGATCATGTTCTACAACGGTTAAAAACACAAATTGTTTAGCCTTACCTGAAGAATTTGAATTAGTAAGTCTGGGGTGGAGTCTGAAAATTTCATTTCTAAATTTCCAGGTGATATTGATACTGTTGGACCATAGTTTGAGAACCAGTGCGCTAGCATGTTAACCTTCTCTGCAGAGTTAGGGGTATGCTGCCCCCATTTCACATTTTAACTTGGAAAAAGTAGAAAGAACAGTTCTTCTTAAAGCTAATGATGTAGAAGTTCTGCTCACCTCCTTCATTTGGGTTCAGTTGCTGAGAATTTAGTCACAGGGCCACAACTAGCTACACAAAGGAGGCTAGAAAACTTAGCTTTTAGCTAAGCAGCCATGTGCCCAGAAAGAAGGGGAGGACAGATTCTTAGGAGGGCTATTATACACTCTTCCACAACTTAAGCTTTAATGTCTCTGATGAAGGTTTTGCAGTGGTTTAAAATAAGGAGACATATATGAAAAAATAATAATACAGTGAAAATAAGGTCTGGGTCATAGAAAATACGAGACTATAATGTAAACAATATTGAAGATGGAGACTGTGAGGCAAAATTTTGATGTGAAGGCTGTTACGGTTCCTTAAATAAGCTTAAATGTGGCTTTGAATCAGATTGCTATGTGTCTGGCATAGTTTCTGATTACTACTAATATAATTGGTGTTAAGTATGTTGTATTAATATTCTTTCAGATATTCAGCCTGGTAATTTTCCTGTTGTGCTATTTCAAAAGATTTATTTAGGACTTTAGTGAAATGAATTAAAAGAGAAGATTGGCATTAGACAATAAAAGATCATTAATGGAGAGCTTCTCAGTAGTTATGATTATGATGATGACTAGCTTTTTATTTAGTGTTCATTTGCTAATCAGAAAATTCATCATGTCTGTGACAAGGAAACTATGATCTTGTTTTTCTTATGTCTTAAAACTGGTATTTGAAGTCAGTTTTGTCTGGAAAGGATTGATCTGAGGCTTTCAAGGAGAACCAGAGGAATGTATAGTGTCTCAGAAGCCAAGAGTTTGGAATTTTAAGATAGAGCATGATCCCCAAATGCACAGAATCAGTATCACCTGGGAAATTATGAAAATGCATATTCTCAAACTCCACGTCAGACTTACAGAATCAGATTCTGGAAATGGGACCTAACAATATGATTTTTTTAAACAGTCCTTCAAATGAGTCTTTGAGAAACCCCTGAGGTAAAGGAATCCACCTAAAGTAACATGTTAAGAAATTTTTATGGAATGAGGACTGAAAGAATACTGTTAAGGGTGGCATTTAAGGTGTTAAGAGTGGCATTTAAGGTGTTTAGTGACCATTGGCATGGTAGGGAAAGTTAAAGGTCTGCCAAATAGTTGAAAGATATTCAATAAGGTAAAATTCAAATAAGCTTGCAGTTAAGAGAAAGGCTTTTCTTGGGTAAGAGGAAACCAGTTAAGAGGGAGAGAATGAAGGAAGAATTGAAAAATAAGGGTGAGTCTCATTAAACAACATCTCGGAAAGTTGGGAATTCAAGCATATATATGAATACAGTTACATTGAGAACAGTATATAAGAGAACAAAAAGAAGGATGAAGATGGAGAAAAATTAATACCGATTTGGATCTAAGACAGTGGTGCTCAACCAAGAAAGATTTTGTGATTGTCACTATTTGTGGGGAACATGCTACTGGCATCTAGTGTGTAGAGGCGAGAGATGCTGATAAACATCCTGCAATGTACAGGGCTCAAACATACCCCGCCCTCAACCAAGAGAAAGAAAGAAAAAAAAATTACGTCATCCAAGATGTCATTAGTGCCACGGGAAGAAGAAACATCAAGCTCAGCCATCTTTGAAGCAACTTGCTTTCCATAATGTAAAAGGCAAGGCTTTTTCACCCCTAAAATGGGGCAAGTAAAATAGAATAAGAACCATACAGTTTTGTCAGAGTGGTTTTCAAACCTGAATTCACATCAGTCATCTAATATTCCAAATATCTGGATATTAATTCATATTGCTTTAAAAAAATATTCCTCAGGTGATTCTTTCAGGTTAGGGATCCACTATTGAAATAATTTCAGTCTCACAGTTCTTTGACTTTATCAGACAGATCTCACCAGTCTGGAAGTGTAAGAAACACTAGCAAAACAGGTATGATAGAGTGAGGTAAGTTCTAAGGTACTAGAGCATCACTAAAGATGGTTTCCAAACTATTTTAGATACTCAGGGAGCAAGTGAGGAAGCTGGTGAGCACAACAAGAGTGGTTAAGACAAAATTCCATTTATGTTGAAGGGTAAGGGTAGTTGACAGAAGGGTAGATACAGGCAGGGTTTGAGAAAAGAATTTCCGAGTTGTAAGGGAGTATGGACATATTTAGTCTTGTTTGAAGAGGAGTGAGTGCAGTTGTAAGTGCCTGATGTTACTTTGGGACAGCTCTATCCAATAAAAATGTGAATGCCACAAATGCGATTTTAATTTCCTATTTATTTTAGTAATTTAACCCAATATAACCAGATATTATTTTAACACATCAATATTTTTAAAAATTGCTAATATTTGTGGTATTAAATCTTCAAGATCATTGTGTATTTTGTACTTAACAGCACATCACAACTCAGACTAGCTACATTTCATGTACCGAGAAGCTACGTTTGGTCAGTGGCTACCTTATTGAACAGTGCAGGTATAGGAATTGTGGGAACAGAATATAGGGTTACAGTTTCTTTTAGGCACATTTGTGTATAGCAGCGGTCCCCAACCTTTTTGGCACCAGGGACCGGTTTAGTGGAAGACAGTTTTTCTTGGTGGGGTGGGGTGGGGAGTTGGTATCATCAGGCATTAGATTCTCATAAGGACCACACAACCTAGATTCCTGGCATGCTCAGTTCACAATACGGTTTGCAGTCCTATGAGAATCTGATGCCGCCACTGATCTGACAGGAGGTGGAGCTGGGGCGGTAATGCTTGTTCCACCACTCACTTCTTGCTGTGTGGCTTGGTTCCGGTTCCGTGGCTGGGGGTTGGGATCCCCTGGTGTATAGGATTAAACTCCCTGAGGATTGGGTTGGAAGCAGGAAGTGTGGAAATTGAAACTAGATATGGGTTTGAATCCTAGGTCTCCAAACTACTTTGGGAAAATTATACATCCTCCTCTTAAGGCCCCTTGTTTTTTAAAAGTAAATAAAAATACCTAGAACACATTAGGCACTATTTTTAAAGACAGAAAGTATATATTTAAGGAAACATGCATATACATTCTTTAGCCTCATCATTTGAGGTAGATATCCAGTAATTTAAGTTAACTTTTACCTTTTTTTTTTTAAAGCTAAAAATTAGGTTCTATCTTAAAGGGTAGGAAATAGAACCTTAGGAAGATAATGTGCAGTTTCAAAAGTTATTTTCTCTAAAGGACAAAATATTTTTTTGCCTAGAGGCAGTTGTTACTTTGCCCAAATAGCAAATATTCTTTGTGCCCAAACAGGTTTGGGATAACATTGGTAGAAGAGTTTTAACTATGTCAAAGTTTTTGTGTGTTTTCATGTTAGACGCTTATTTCTCATGTACTCGAGATGACTTTCCAAATATAATTTTTCTCCCTAG
Seq C2 exon
ATATTTTTAGATGAATTACATGAACATGGACAACTGCATTCTATGTCATCTTGGATGGAATTGTATCCAACTATTAGTTCTGATATTAGATTCACTAATATGCTTGGTCAGCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504:ENST00000410080:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.267 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0184614=FF=PD(23.2=28.9),PF0184614=FF=PU(10.7=13.3)
A:
NA
C2:
PF0184614=FF=FE(67.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
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