Special

HsaINT0137429 @ hg38

Intron Retention

Gene
ENSG00000136237 | RAPGEF5
Description
Rap guanine nucleotide exchange factor 5 [Source:HGNC Symbol;Acc:HGNC:16862]
Coordinates
chr7:22136933-22140115:-
Coord C1 exon
chr7:22140025-22140115
Coord A exon
chr7:22136984-22140024
Coord C2 exon
chr7:22136933-22136983
Length
3041 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
TGTTTGTGTTTGTTTTTTAGAAA
3' ss Score
10.55
Exon sequences
Seq C1 exon
CTGCAAAGCCCAGAGAAACCTGAATTCTTTCTTTGCCATTGTGATGGGTCTCAACACTGCTTCTGTCAGTCGACTGTCGCAGACCTGGGAG
Seq A exon
GTGAGCCTTGGAGTCCCATGGTGAGGGGCACATAAAATGGAAATAAAGTAATTTACATGGATTAAATGAGATAAGTACTACTAAACTAAAAATGTTTGAAAGTCATATGTCAAGGTGGTAGGGATCTTTTTGATCAAATGGTCTTTAAACGGTTGTATAATGTGTCTGAACTAGATAAAAATGGTAACGTGCTCCCCAGCTAGAATTAGTCTTCCCCTCTGTCCTGCCTGATAGTGCAGTGCTCGTTCCAGGCTGGTCCCCACAGTCTCCCCGCATGATGATGCGTGCTCAGAAGTGCGTTTGCTGTGATGCTAATGAGTTTAAGCTTCGAGGCCTCTCACTTGCAGGGCCCCTGGCAATGTGTTCACATGGATGATGTATATTTTTGTAAAATTTGCGAAAGCAAAGTAATTTTAATATTCTTTTTCTTAAAGAGGATCCACAAAACGTTCTAAAGTTTCAGACCTCCCACTTCCTGGCTCTGCACGCCGAAGGCTGTTTGGGTTCTGAGATGCAGAGGCCCACTCAAGTTCGCACAAGGTCTGACGTGTGGACTGCGACATTCATGTGGGAAGACCTGAAACTGGGGATACCCCTAAACTTAGCCAGACACAGGCGCAGGACTCTGCCTCACTCATGGTCCCCTCACCGTCCTTCCTTGGGCTTTTGTTTCCTTCGCTCTCCTTTCCTTCCTGACTGGCTACCTCCCTATGTACCACTTCTCCCCTCATCATTGCTCTTTAAGCATCATGCCTCTGCCTCTAGCCTGCGTGTGGCTCACTGTGGTCTCCTCAGCCTCCCTCACAGTCCTCTCAGATTTAGTTCCTATCACTGACTGTGCCATTCTCTTCATGGTTCCCAACTCAAACTCCTACAAGAGAAAAGCTGATAGGCCAGCTATCTTTTTCTCGGAATAGGTCTCTGGGCAACCTGTGGATTCGCTTTCTTTCAGTCAGGGGTCATACCCTGAAGGAATGCACTGTGCTGACCCAAGGGTCAGAGTCAGTCCTCCTTAAAGGGGCCCAAAAGAAAAGAAATGAAAGCCCCGCCTGCTCTGCTTAAGCAAACAAGACCTTCACACACAAAGCAAGATGAAAGACATGGGTGACAGATGCCACGATTCATTAGAGTAGGAGGAAAACAAATGGCTTGGCAAGGGTCAGTGGGGAGCGAATTTGAATTAAACCTTGAATGAAACTGATTTGGAAAAATTGAGAGGAGAAATAACTCAATTAGATTCAACCAGCTTATGTTTAATCTGCGCATTGACTGCCTGCTATGTGCAGAGCACTGCATCAGTGCCATAGCAGACAGGAGATGGCTACATGAGAACTGAGCATGCCTGTGATGACAGAAGTCTTGGACCAGGGCAGAGCAAGTGGAGGGACTCATTCTGCCTCTGGGTAGCTGAGAAAACTCGAATGAGAAGCCTCAAGCTGCAGGGCCTTCGAGGTCCAGCTGAGAGTTACTGGAGTGTGGGGATGGGCATCTCAGGTAGAGGTGACCACAGGATCTCCAGGTCTGGTGACTGGATGAATGGAAAGTGATCACACTTCCCAAATAGATAATACAGGAAAAGAAACAGATCAGAGGTCAGCAAACTGCTTTGGTAAAGGGCCAGCGAGGAAAAATGTTTAGGTTGTGCAGGCCACATGGTCTCTGTTGCAGCTGCTCAACTCTGCCATTGGAGTGAAAGAGCAGCTGTAGTACGTGCCTGAATGAAGGGGCGTGGCAGCAATCCAATAAAACTTGACCTCCTAAAAGTAGCTCATGGCTAGATTTGTTCCATGGCTGATCTCTGGAGTAGATCACTTAGTTCGACTTCGGACATGTTGGGTTTGAGGTGCCACTGGGACATTTGTGAGGGATGTCCCACAGACTAAGGTAGGCAGCTTAAAAGAAAGATTGGAATCAGTTGCAAATATCTCCATTTTGTGTCTTCTCATTTAATTGGTCCTCTGTTTGTTGGGGTGTGTGTGTGCGTGCGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGTTTCCAAACAGATTAAACTACCTGTTTGCTGTGATAAACTGAGTCCATATTCAAAATTACCACATCGAAAAAAATCTATCTCTAAATAATGTAAAAGTCTAATTATTGTAGGAGTTGCCTCATTGTTTTGATTCCTTTTAGAAACAAAAAATCCCAGAAATATCTTCTTATACTTTGTTGTTAGTGTTAATAGCTGGCATTTGTTAAGTACCAGCCAAGGACCGTGTACTTTTCATGAGTGGTCTCTACATCCTCAGCTGAAGAAACAGATCCGAGAGCTTGCTGACACACCAAACCACATAGCTAGAAAGGGCAGAGTCAGAGTTCAAACTCAGGCTGCCTTTAAATATGTGCTGTTTACCACAAAAGATTACTAAGTCAATATTGAAAGGCACCCAATTTTTTACTTAGCCATGTTAAAAGCAGGCTGGAACATTCCAGGCCCTTCTTCCTTAGGCCTGAATTTTTATTTGGGAGGATGGCCTATGTTTCCATCCCCTGTCACTTTGCATGGTACCTGTTATGGTTGAGCTCTTCAATTCATTGATTCCACTCATTAAAGTGCAGGCTTCGTCACTTAAGGTCTTCCTGGCCCTTCACTATTTAGCCCAATGCTGTGAAATAAAATTTCATCATCTATGCTAAAAATGTCAGCCAACATAATTGTTTCCCACTCAGGAAGACTATTAAGAAGATGAGAGCATTTGTCAAAGGTAGGGTATGGAACTGAAATCTAAGTTTTTATTAAATGACCACCAGTATGTGGAATGTCTAACCAACTAGATTCCTGAATCATGTGGCTGTTATTTTAAGCTGTTTTAAGCAGCATTCCTAAGGAAGATCACATTAAAGGGATGATGAAAATTGCATAATGAGAAGCAATCAGGATTGAACAGATGATAGAGGTATTTATGTTCAGAAATGTGACACAGATAAACAACGTAATGAAAACTCCCTTCGATGCCTCTGAAAATAACCAACTTCTGTGACCTTCTGTTTTTTGTTTGTGTTTGTTTTTTAG
Seq C2 exon
AAAATCCCTGGGAAGTTTAAGAAACTTTTCTCTGAACTTGAAAGTTTAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136237:ENST00000401957:11
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:
PF0061714=RasGEF=FE(16.2=100)
A:
NA
C2:
PF0061714=RasGEF=FE(11.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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