Special

HsaINT0137423 @ hg19

Intron Retention

Gene
ENSG00000136237 | RAPGEF5
Description
Rap guanine nucleotide exchange factor (GEF) 5 [Source:HGNC Symbol;Acc:16862]
Coordinates
chr7:22194073-22196506:-
Coord C1 exon
chr7:22196428-22196506
Coord A exon
chr7:22194223-22196427
Coord C2 exon
chr7:22194073-22194222
Length
2205 bp
Sequences
Splice sites
5' ss Seq
AAAGTGAGT
5' ss Score
8.4
3' ss Seq
AATTCTTTTCACTTGTGCAGTTT
3' ss Score
7.42
Exon sequences
Seq C1 exon
AATAAAGCCCTTTTCCACCAATTCAGTCTTAAGGAGAACTGGCTCCAGCATAGAGGAACTGTGACTGAAACGGAGGAAA
Seq A exon
GTGAGTATGGTTTGAAGTGAGGGTTTGGGGGTGGGCAGCAGTTAGCCACCATTTTTCTCCTACATTGGCATATCAGCCTGACTAACCTTCATTTCCAGCTGTCACCCCTCAGATAAGCACGTTAGCCTCAAACAGCATGGTTTTTCTTTTCTTTATTTGAGCATTATGGTTTTCTTAGATCACATAATACTGTCCCAAGCACCAAGGATACTTATAATTTGGGAAGCAAGGAAAGGAGACAATGCCTAGAGCCTCCTTGCATTCTTGAGAAGAGGTAAAAATGAACGGGAGACTCAGCCTTTTCCTCCTAGAACCATCTCCTCCCTGCCTTCATCAGCCCATTGTCTATGACTAACTGGAAGGATCACCAAAGTCAATGTGCAGATTTGGGCTGAGTCAGTCCATGACTCAGTCCACGAGAAGAAACTCCTGTGGAGAGAAGGCTGTACGGTAGAAGCTCCTGCAAGGCCAGGCTGTGTGGGCAGTGCTGCCCATCTACTGTGTCCTCAGTCACTGCTTATTTGCGTGAAATAAGAAATATTACCAGTGGTTTTCTCCTTTTAGATAAAGATTGAGTCAAGCACAGAGCTGGAAAACACAGCAAATTAAAATTTTAATGCAATTATAACTCACAGACTCTCTCTTTTGCCTCATCTTTCTTCATATGCTGAAATTCTGAGTGTGATCATTTAATATTTGCCCAATTTCTGGAACTTGTAAAAGAAGTCACAAGGATGCTTATTACATTAGATAGTGTTTGCATATAATGCTGCTGATACATGGTTCTGTTGGCTCATATTAAGTGTCATCCGTACCAAGTGAAAGAGAAAATAAAATTATCTAACTTCCTAATTCATTCGTTGCTGACCTTCCTTGCCCATTTGTCTTAAAGTTTCATCGTGTAGTTTTCCAAGCTGAGCTGCAAAGAGGCAAAGTATTTCGAGGCCCCCAGACTCTTTTTATCAGTTTATTTAGCAAGATGTAAACTTACCCTGCATATAGTGGTTTATAGACCAGATTTTGCCTTGCTTAAAAATTCCATCTTTCTATGGAAGGAGGAAAGCCTTTTTCTCTCTCACTAGTCTATTGGCAAAATACAAAACAACTATTTGTTACATGCTGTTGTTTTAGTGACGTACCCAACCAAACCAAATATGTCAAGTGTCTCCTGGTGGTGTGTTTACTTTGAGGTTCTATACATATAAACTCATAGTTAGACTTTTGCTTCATTTGTATTTCTATGAAAACATTCCTGGGTTTATTTTTGTGGTGCCAATTAAACTGCATATAAAATTTCTCCAGAAGCTTCACTCTCAATTTTTTTGCAACACCAAAGAGTAGAATATCTAAGTATATTATTGTCCTTCTGTCTATTTGAAAGAAGCTAGTGCATTTTATACATTTATAGTAGCTGATATAAGAGGTAATGTGTCAGTTACTTCCATTGCTATTAAAACAGCTTCTGCTATTAATATCATAAAGAAAACATTTTTCAGGACCCATTCACCCTGATAGTGATAATGTCCTAGTAATAATTATTAGCACCACAGACAATAAAAAGGAAATTAAAAAGACTAGAAATGTGACCTCCATTTGGAAACTAAATTCATCACTACCTTGATGGGAGAAATGGAGTCATTCTTAAATGACTGAGAAAGCTGAACTCAAAAACCAAGGCAGATGACAGATTTTTAGATAAGCTTATGAGAATTCTAATAGCAAAATACGGTGTTCTTGATTGGGCCACTGAGATTGTCCTGAAATGGAGTGTAAAGGAAAAATTTATGAATTAGACACTTTAATATGCAGCTTTGGGAGATCTCAGCAACTGTCAAAGAAGGGATTTAAAAATACAGTCTGTGTACCACAGTTTCCACTGTATTATGGTCAGATGGTTTCTACAGTGAGTACACACTTGCGTGACTCGGGTCTCTCATTACATAATGAAAAGATTAAATACTACTTGTGCTTGTTGGCTGGCTTTACAACATCTGAGTTTCATGTGTTTGCAAGCACACATTTATAGACGTATACCCTCAGGTGCTCATGTACATATATAAAAAATCTAACTCTGTATGTGTTATACTGAAGAGAATAGCCAGGTGGGTTGATTTAGAAAAGTTGATCAAGGTGCCTTGATTTGGAAAAGTCTATACCTCGTGACCACTGTTCTCTGTTTCCAAACAATTCTTTTCACTTGTGCAG
Seq C2 exon
TTTTCTGCCACGTGTATATAACAGAGCACTCCTATGTCAGTGTGAAGGCAAAAGTTTCCAGTATAGCCCAAGAGATCCTAAAAGTCGTGGCAGAAAAGATCCAGTATGCAGAAGAGGATCTGGCTCTGGTGGCCATCACATTCTCTGGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136237-RAPGEF5:NM_012294:16
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=PU(2.5=7.4)
A:
NA
C2:
PF0078818=RA=FE(62.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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