Special

HsaINT0137315 @ hg38

Intron Retention

Gene
ENSG00000107263 | RAPGEF1
Description
Rap guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:4568]
Coordinates
chr9:131596298-131598310:-
Coord C1 exon
chr9:131598199-131598310
Coord A exon
chr9:131596374-131598198
Coord C2 exon
chr9:131596298-131596373
Length
1825 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
3' ss Seq
CTTGGCTGTGTTCATTACAGGGT
3' ss Score
9.07
Exon sequences
Seq C1 exon
GGCCCCAAAGTCACCAGATGCTCTGGAGTCGGCTCAGTCGGAGGAGGAAGTGGACGAGCTGTCCCTCATTGACCACAACGAAATTATGTCCAGGCTGACGCTCAAGCAGGAG
Seq A exon
GTGAGAACTTCCCGGGCTGGGGCTTTGCAGCCTGGCCCCACAGAGGAGAGCAGGTGGGGCAGAGAAGAATGTGATCTTGTCATAAGCAGAACAACCCTAGGAGGCTTAGAGACCAAGTCTTTCAATGCCCCTGGTGAGCCTCTGGGCTGTGGGCTCTGGAGGGGTAGACTCCAGGGGAAGTGTGCTGTCTCCTTCTGATGCTTATAGAAAGTCATCTTACACAGGTCAAGTTCTGCAGCCTCTCTAGCTAAAGATGCCAGAACTCCTGAGGGTGTGGAGATGGAACCCCTGTAAATGCTCTGCAGACAGAGCCTGCATGTGGCCGGCCCTCACTAATGGGAAACTTTTTCTGTGGTTGAAAAAATAGCTCCACTGTAGCTTCAGTCTGGGAGACAGAGGCAGGGGAATGGCTTGAGTCCAGGCGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCATCTCTAAAAAAAAAGAAAAGAAAATTCAGGCCTGGACACTGTGGATTCCCTGGTCCTGTGCCTTGCCTGCAGAACCTCGTTGGTGAAAAAGGGCCCAAACCTGTGAGAGTGGAGAGGAAGCAGGACAGAGAGTGCCCTGCCTCTCCCTCCTGCCGTGCAGTGCTAGAAGTACAAAGGAGCGGCTTCATAAAGCAGCCTTGGCCCGCACCAGGAGGCAACTGTTTTGGGGCTTCGATTTGATGACACATGGACAAAAGGGCAGATACTGCCCTTTGCGCACTCCCAGGCAAGGATGCGCTGGCTCTGGCCATGGCAGGGAGCAGCCCAGGAATGTGTCTGCGCCTTGGGCTGTCACACACAGGCAGGGCTGATGAGGGTACTCACACAGCTGGGCTCCTCTGCAGAGAGATCCTTGCCATAAATTTCTTCCTTAAAATCAGGTCAAAGGCATAGTTCCTACTCCTAGAGGTAAACCCAAGACAATCTCAGGCCTCTGGAGTCAGGAGGTAAAATACCAAAGCCTAAAAATAAAAAGGTGGGCTAGTCCCGGAGTGTGTACCGCAGCTGAGAGGGCTGGTTCCGTCCCTCCAGCGTTACAGAGCAAGGAGCATTGAGGGCCAGGGGCAGAAACAGGCCTGGGGGGTTGTCCTGGACCTCTGTTCCTGGCCCTAGTCACAGCTCTTTTTGGCTCTACGCTGGGTGGCCTCTGTTTGCCCACATGGAAGCAAGACTTGCTTCTTAAGAGGCAGGTGGGTTGGTGGCAGGTGTGCAGCGTCAGAAGTCATTGAATATTTCTGTCTGTAATGCTTTGCTCTCCTTTAAGGAAGGGCCCCACAGAAGAACCTTGTGCCAATGCAAGTAACTTCTACTTCCACCTGGGGAGACGGATTTAGATGTAGGGCCGCTTGCTGCAGTTTTGGGGAACATGAACATGCTTAGAAATAGTCCTGCTGCCTCCACAGGCATCCTGGGCAAGGCTGGGGACTGTCTTGCCCCCAGGGGGTCCTACCTCACCTCTGACTTGTGGTTTGGTGAGCAAGGAAGGATGGAAGGTGCTATGTCCCCTGGCCCAAGTTGTGTGCTCAAAACAGTGGCATGCCCTGGTGCCTTGGTGCCGGGGCAGCTCCCAGGCCATCCAGCTCCCAGACACAGTCCAGTTTGTGCCTGTCACCAAGCACAAGGTGAGTCTGGAGGGCACCCCTGGCTTCGCAGCGCAGCCACACTGCTCCTGGGCCGAGGAGCACAGAAGGAGAGGGGACTTGGGGTTGCAGGGCATTTTGTCATCTCATTCCTGCCTGTTTCTTCCTAAACTGATTCTCTGAAGGGCATACTCTGCCTCATACCTTCCTTGGCTGTGTTCATTACAG
Seq C2 exon
GGTGATGACGGGCCGGACGTCCGCGGAGGATCTGGGGACATCTTACTGGTCCATGCTACTGAGACTGACAGGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107263:ENST00000372189:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.772 A=NA C2=0.519
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0061815=RasGEF_N=PU(20.0=76.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCAAAGTCACCAGATGCTC
R:
CCTGTCAGTCTCAGTAGCATGG
Band lengths:
182-2007
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