Special

HsaINT0137399 @ hg38

Intron Retention

Gene
ENSG00000091428 | RAPGEF4
Description
Rap guanine nucleotide exchange factor 4 [Source:HGNC Symbol;Acc:HGNC:16626]
Coordinates
chr2:173017426-173018802:+
Coord C1 exon
chr2:173017426-173017504
Coord A exon
chr2:173017505-173018655
Coord C2 exon
chr2:173018656-173018802
Length
1151 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
3' ss Seq
TTGTTACTGCCTTTGGATAGTTC
3' ss Score
5.84
Exon sequences
Seq C1 exon
CACAAGGTTCTTTTGCAACAGTTCAATACGGGCGATGAGAGAGCCCAGAAGCGCCAGCCTATCCGCGGCTCTGATGAAG
Seq A exon
GTGAGAACCCTCTTCCAACTAACTCGTAGTTGTATAGATTATTTAGTCAGGATAATGGTAAGCATCACCTTGGACCCACAGAATAGCTTCTTTTGAAGATGCCCTGTTGCCCTCCAGATGGTTTGCTTGGAGGTGCCCTTTGGTGGCCCGATTATTTATGTCCTTAAACTCTTGTGCCTGAAGCCGAGATGCCTGTCTACCTTTCCCTGATTTGGCCTCTCCCTGCTTAACCCCTTTCCTTGGAGGAAATGAAGATGATCTCAGGGCCTGGTTGTCAGGATTGCCCACCCCTGGGAAAAGCTGGTGGGAAGGTAGCTGGCGCCTAGTGGGTGCCAAGGAGACAATGGATCACCAGCATCCTGCCCAGGGACAATGCTCTGGCCCTGAGCCCAGCCCTGAGCAGGGAGGCTTTACATCAGGAAGATCAAGATGCTGGCTTTTGTTTGGTTATTTAAGATTCTCCAAAGAATCACAACCAAAAATAGTCACAATAATAATGATAAAAATTTCATTTAAAGCTATAAATAAATCTTGTCATTTAGGACTGCCTCTAAACCCAGGAATTATAATATAATAATGGGAATTGCTCCCAGGATTTTTGTGTTCAGAGTTGAGCCTCTGGGTGCCATATCCAGATCTGCTGATCTAAGTCTGCTGAGCTAAATAGCATCCGAGCTTACATGGCCTGGCCCCAAAGCACACAAGCCACTGAAGCAAGTGAGCAGGAGTGTCAGCACGTGCTCATGGCCCAGGCGGAAGCCCTCCTGTGTGCAGAGAGGTGAATGGTGTCTCCCCACTGCCACACAGGGTAGCAGTGATCTGTGAATTGCCTACAGTATAGCACTTCAGACCCTGAACATCAGCCTGAAGATACTCTCAATTTTTTCCCATGACCTCTTTGTGGGGTTTTCACCAATATCTCTTGTTCTTTTAATTGGACTTGGCAACCATATGTGCACCTATTCTTAGACCAATGCTAAGGTAAGCAGTTTAGAAGGGGCAGGAATAGGGGTAAATGAGTATGAATAAATACAGTAACAAAAATGGCAAAATGATGCAAATTGGAGAGGATGCCTAAACATTTTTCATAACTATAGTTTTATTGAAAACTCTTAAGAGTGATTTACTACCTTGTTACTGCCTTTGGATAG
Seq C2 exon
TTCTGTTTAAGGTCTATTGCATGGACCACACCTACACAACCATTCGGGTGCCAGTGGCCACTTCGGTGAAGGAAGTCATCAGTGCAGTTGCCGACAAGCTGGGCTCCGGGGAGGGCCTGATCATAGTCAAGATGAGTTCCGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000091428:ENST00000397081:21
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.148 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0078818=RA=PU(2.5=7.4)
A:
NA
C2:
PF0078818=RA=FE(61.2=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACAAGGTTCTTTTGCAACAGT
R:
TCCTCCGGAACTCATCTTGACT
Band lengths:
225-1376
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