Special

HsaINT0137315 @ hg19

Intron Retention

Gene
ENSG00000107263 | RAPGEF1
Description
Rap guanine nucleotide exchange factor (GEF) 1 [Source:HGNC Symbol;Acc:4568]
Coordinates
chr9:134471685-134473697:-
Coord C1 exon
chr9:134473586-134473697
Coord A exon
chr9:134471761-134473585
Coord C2 exon
chr9:134471685-134471760
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-RAPGEF1:NM_005312:13
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.787 A=NA C2=0.542
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
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