Special

HsaINT0137400 @ hg19

Intron Retention

Gene
ENSG00000091428 | RAPGEF4
Description
Rap guanine nucleotide exchange factor (GEF) 4 [Source:HGNC Symbol;Acc:16626]
Coordinates
chr2:173883384-173885443:+
Coord C1 exon
chr2:173883384-173883530
Coord A exon
chr2:173883531-173885345
Coord C2 exon
chr2:173885346-173885443
Length
1815 bp
Sequences
Splice sites
5' ss Seq
GAGGTAACA
5' ss Score
8.1
3' ss Seq
CATGCTTTTTATGTTCACAGAAA
3' ss Score
8.99
Exon sequences
Seq C1 exon
TTCTGTTTAAGGTCTATTGCATGGACCACACCTACACAACCATTCGGGTGCCAGTGGCCACTTCGGTGAAGGAAGTCATCAGTGCAGTTGCCGACAAGCTGGGCTCCGGGGAGGGCCTGATCATAGTCAAGATGAGTTCCGGAGGAG
Seq A exon
GTAACAGTCTTAATTCATATTTTAGGCTCTGCAAAATGGGACATTCCATCCAAGCAGAAACTATGTAAGGAGTTAGCGTGGTCATGTGAGGCTCACCCAGAGGATGAACTGGTGCTTATGTATGCTTCCACTAATAACAGAAACAGTATGGGTAGAGGTGGGTTGGGTTTCTAATGTCCCCTATCTGGTAGGTACCCACTCTAAATCAGAAAGGTGACTGGAACTGAGGACTGTCGTGTAGATGTTGGCCTGGAGTTCTTTCAATTTAAACTCTATTCAAAAAAGTTTTAGGCCTTGGAGCCCTGAAAAATATGGGCCCCAAGAGGAAATCTAGCTGGACAAGCTCAAGGCCATGGGTTTCTACAAGTCCAAAGTTGGAAGTGGTCAGAAGCTAGTTCTTTGAAGCTGATGATGGTTTTTCTCCTTACTCAGTAGAGAGGCTAGGAGCCTGGCTCAAATGAAATGAGGAATATTTTTCCTCCACGGGATTACAGTTCCTTTCACTGTCCTTGATTACATGGTGCATTTTTGAAATGTCATTTATTCGTTCATCACATATTTACTGGCCACAGTGTGGCTACGAAGGAAAGAATGAGTTAGACACAGCTCACGTCCCCAGGTTGTTCCCAGGCCAGGGAGGAGGTAGACGGTAAGTTAAAACAATTACAGTTCATGCTGGCAAGAGTTTTAGGAATGACCACATATTGTAGTGAGAGACTAGAGGAAGCAACAGTGAGGTTCATTTCTCCAGTCATGATTTGACAGCCATTTGGCGGAATCCTTCAGGAACAGGTGAGCCATTTCTGTCATGTTTTAAGGTGAATGATTCCACTGATGGAGGATTTTTAAATGCATGTTGGATTTTAAGATCTCCCTTCCATTTCTGCTCCAGTTGCACAAGGCCCAGGATGTCTGCCCTCCCTGACCCCTTGTCACCTTCCCATAGATATCCCAGGTCTCACCCTCACTTTCTTTCAGTCTTTACCCAAATGTCAGTGTCTCACTGAAGCTCCCTCCTTCATTTGCTTCATTCCCTTTCTAAAATGTTAACTTCTTCCCCTTACACAAGCTTCCTAGACCCCACCCCTGTGATATTTTTTTCTCCTTGCCTTCTCACTCTGTAATCTATTTCTTTTCTTTATTGTTGGCATCTCCCACTATGATGTAATGCTTTTTGGAGTGGGATTTTTTTTCTGTATTGTTCCCTTCTGTCTCCCCAGTGCCTGGAGCAGTTTCTGGCATGCAGTAAATACAAAATAAATGTTTATTAAATGAACTAATTTTTTAATTTTTTTGACATGTTCTCATCTGAAGAACTAATTTTTTTAATGTGGGAGGAGGCTTAATCTAGTTAATGCTATTGCCCTGCAAATTAGGGAATAAGTGAAAAAACAATAGTAAATTTTGCATCTAAAATCATGTGAGGTCTCAGAAACCTCCAAAGTTTTTAAAAAGTGATCTTTCTATGTCCAAAGTCCTGGGTGTGATTACCATCTGGAAACATAACTTGTGAGATAAATAGCCAAGTGCGGGTTTTATGTGCTCAGTAATTATGGTTGCAGCACAAAACTGGGTGAATTGACCCTCTGGCATCTCTATTCCTTTTTGTGGCCATTTCTGAAGGCATCCTGAGTGGCGCAGGGCTGCATGAATGCCGTCTTTTTTATTCCGTGGATCCCTTCAGTACTCTATTTTATGCAGTCACTCTGCGTGTTCCGGTAATTCACCAAGCTGGCAATTTGTTGGTGTGATTAGGGCAGTGCAGCAAATCTCAGATGTATTTAATAGGCAATCTCATGCTTTTTATGTTCACAG
Seq C2 exon
AAAAGGTGGTGCTCAAACCTAATGATGTTTCAGTATTTACGACGCTCACCATTAATGGACGCCTGTTTGCTTGCCCGCGAGAGCAATTCGATTCACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000091428-RAPGEF4:NM_007023:22
Average complexity
IR-S
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:
PF0078818=RA=FE(61.2=100)
A:
NA
C2:
PF0078818=RA=PD(35.0=84.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGTTTAAGGTCTATTGCATGGAC
R:
TGAATCGAATTGCTCTCGCGG
Band lengths:
241-2056
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