Special

HsaINT0137482 @ hg19

Intron Retention

Gene
ENSG00000108352 | RAPGEFL1
Description
Rap guanine nucleotide exchange factor (GEF)-like 1 [Source:HGNC Symbol;Acc:17428]
Coordinates
chr17:38345118-38345627:+
Coord C1 exon
chr17:38345118-38345230
Coord A exon
chr17:38345231-38345459
Coord C2 exon
chr17:38345460-38345627
Length
229 bp
Sequences
Splice sites
5' ss Seq
AGAGTGAGT
5' ss Score
7.36
3' ss Seq
ATTTTCCTGTTTCCGTCCAGTCT
3' ss Score
7.78
Exon sequences
Seq C1 exon
GATTCCAGAGGAGAACCAGCCACCCAGCAAGCAGGTGAAGCCACTCTTCCGCCACTTCCGCCGGATAGACTCCTGTCTGCAGACCCGGGTGGCCTTCCGGGGCTCTGATGAGA
Seq A exon
GTGAGTGTGGGCATTAGGAGGGGCAGGGTGTCCTGAGTGGCTCAGGGGGACATATCTCTGGGTCTTGAGCACCCTCAGTGGCATCTCCCTGGGTGGTAGAACCAGCCCCTTTCACAGGACCTTCTTCAGAGGCCAGCCTCTGGTGGGGAATAGAGGCACCCTGGAGGAGACTGTGCCAGCTGCTGCCACTCTGCCCTCTGTTGAAAGCCATTTTCCTGTTTCCGTCCAG
Seq C2 exon
TCTTCTGCCGTGTATACATGCCTGACCACTCTTATGTGACCATACGCAGCCGCCTTTCAGCATCTGTGCAGGACATTCTGGGCTCTGTGACGGAGAAACTTCAATATTCAGAGGAGCCCGCGGGGCGTGAGGATTCCCTCATCCTGGTAGCTGTGTCCTCCTCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108352-RAPGEFL1:NM_016339:5
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.083 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0078818=RA=PU(2.6=5.1)
A:
NA
C2:
PF0078818=RA=FE(71.8=100)


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:
ATTCCAGAGGAGAACCAGCCA
R:
CAGAGGAGGACACAGCTACCA
Band lengths:
277-506
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development