Special

HsaINT0137318 @ hg38

Intron Retention

Gene
ENSG00000107263 | RAPGEF1
Description
Rap guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:4568]
Coordinates
chr9:131588801-131589978:-
Coord C1 exon
chr9:131589886-131589978
Coord A exon
chr9:131588987-131589885
Coord C2 exon
chr9:131588801-131588986
Length
899 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
3' ss Seq
TGTGCTCTTTTGTCCTTCAGCCT
3' ss Score
9.03
Exon sequences
Seq C1 exon
ATATGAGAAATTCTCTCCCTTTGCCGACACATTCAAGAAGCGCGTCAGCAAGAACACGTTCTTCGTGCTGGTACGGGTGGTGGATGAGCTCTG
Seq A exon
GTGAGTGCTTCACCCTTGGGGTCCTGGGGGCCAGTGGGGAGGCAAAGGCTCCATTCCACCTGCTTCTCCTGCCCATCGGCTCTGGGCAGAGCTGGCTCTTGCCTGCTCTATCTTGGTCCTTTGAGAGAATGGCCTGTGCCCGATAGACCAGGGTGAGATGGGTGAGGTGTCTCTCCACCCTGCACCCAGGCCCTGGATTTCCTCATGAGGTCCCTCCTGGACCCTCAGGAGAGAACCCGCCCAACGCACCTGCTCCCATGGTATCTTAGGTCCAGTCTCCAGCAGGCCGTGCTCTCAGCCGCCAGCCATGGTGGAGGCTGTGTGGAGGCTGGAATGGGAGAGGCCACCTCTCCCTCGCTCCTCAGTGTTTCCATGGCTGGCCATCTGACAGCATGGCACTTGGCCATATCCGTTCCGCTAACAAATCTCCATCAGGCGGACTGCCTTCCTCCTGCTGGGGGAGATGACCATGGTAAGTGGCTGTGCGGCTGGGAAATGGCCACGTGTGGACAGTGCTCAGCAGGGCAAGTTGGGGAGCATCTAGTCTGAGAGGCCGGGAAGTCTTGGTGTCTCATTGCCCAATGGGAGCAGCAGCTCCCCAGGGCGGGATTCGTGTAGGACTTGTCCCTGCAGCCCAGGCCCCAGCACAGTCACTGGCGCTTGTCCAGCGCCAACAGATGGCTGTTGAGTGTGTGGCAGGTGCTTGTGACCATCCCAACACCTCCAAGGACACAGGCAGCCATCCCAGGCTCTCGTCTCCTGCTCTCTTCCCATGAGAAATTTCCCAGCCAGCTCTGTGCCGGTCACAGCCCCGTGCCCTTTGTGTGTCTCAAGGCAAAGACAGACTCTGCCTGGGCCTTGCGTTCCTGCTCCTCACCTTGTGCTCTTTTGTCCTTCAG
Seq C2 exon
CCTGGTGGAGTTGACAGAAGAGATCCTGAAGCTGCTGATGGAACTGGTCTTCCGCCTGGTGTGCAATGGGGAGCTGAGCCTGGCCCGTGTGCTCCGGAAGAACATCCTGGACAAGGTGGACCAGAAGAAGCTACTCAGGTGTGCCACCTCCAGCCAGCCCCTGGCAGCCCGGGGGGTAGCAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107263:ENST00000372189:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0061815=RasGEF_N=FE(31.0=100)
A:
NA
C2:
PF0061815=RasGEF_N=PD(20.0=31.7)


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:
GAGAAATTCTCTCCCTTTGCCGA
R:
CTGGCTGGAGGTGGCACA
Band lengths:
246-1145
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