Special

HsaINT0137327 @ hg38

Intron Retention

Gene
ENSG00000107263 | RAPGEF1
Description
Rap guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:4568]
Coordinates
chr9:131643239-131650242:-
Coord C1 exon
chr9:131650129-131650242
Coord A exon
chr9:131643418-131650128
Coord C2 exon
chr9:131643239-131643417
Length
6711 bp
Sequences
Splice sites
5' ss Seq
AAGGTCAGT
5' ss Score
8.68
3' ss Seq
TGCCTAACGTCTCCTTTCAGAAC
3' ss Score
9.7
Exon sequences
Seq C1 exon
GAGGCAACAGACAGATTTCTACCAGAGGGCTACCCTCTCCCCTTGGATCTGGAGCAGCAGGCAGTAGAATTTATGTCCACCAGTGCTGTGGCTTCCAGGTCTCAAAGGCAGAAG
Seq A exon
GTCAGTGTAACATTAAGAACAATTGGGTTTGCCTTGCCTTCTACTGCAGAATCCTGGTCCATGGTTTTGGGGATGGAAAAAACTCTATTGCACTATTATTATGTTCAACTGGGTGGTGACCGTGGGCTGAATTGTTCAGGAAAGAGTCCAGGGGACCTTGGATAAAAGTGAGAGTTTATGCAAGGTCCCATGATCTTTGGAGAGAGCTTTGTGGCAAAAGCTTAGGGATTCTTTCTGGGGTTGGTTTGGGTGTGCTGCTTGGGTCCAACGGGTTCCAGGGGATGTGGGCGAGTCTCATCTCTCAAGACCAGCTGTTCCTTGAATTGCTAAGATGATCTGAATAGTTTAGAAGGGAAAAGGCTTCTGAAGCCTCCGAGTGCTTTCTTACCCATCTCACAAGGCTGGTGGAGTGCAGTGAGACCGCCGCATAACCAAGTGCTCTCAGAGCCCCAGACACCTGTGTCCCTAACATTTATGGAGCCTTTTCTTGGTCCAGTGCTGAGTGCTTTACATGTGTCCTCTTACTTGTCTTCATAGCAACCCTGATGTGTGAAAAGTTATTTTGCCAAAAAGGAAACTGGATCTATAGAAATATTAAGCATTTAGCCAAAGTCGCACAGCAAAAAGGTGGCAAAGTCAAGATTTGAATGCAGGCTGTCTGACGTCAGAGTCTGAATTGTCGAGATGCTACGTTTCCTCTTTATGAAAGACAGAATTTTTAATATCTCGTGAATTTAAATATTAATCCTGACTCATTACATAAAAATAAAACTAGGCTGGGCACAGTGGTTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGACAAAACTCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAATTTAGCCAGGCATAGTGGCAGGCGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTAGGTAACAGAGTGAGACTCTGTCTCCAAAAAATAAATAAATAAAACTAAACTTAGCAATGTAAAATAAAATAAACCTTGTAGACAGATATTCTTAATCCTTTAGTGATTATCCAAAGTATAATTTCTATGTAGCAGAACTACTGTCACAGCCATCCATTTAATGCCGCTGGTAAACACTAGCCTGTTATTTAAATACATAATTCTTGAATTTTGCAGTTCATCTATTTTTGGGTTTTATGTTGACCAGCAGAATATCTTAAAATTTTAGTTAAAAGTGGAGGAAAATAAAGGTTTTAAATCTAAAAGTCTTTTGTTGAAAAGTGGTTTTTCCTGCCCCCTCTTTTAACGAAAGGTGACTGACAAGCAAGAGGGAAACAGTCAGTGTTTGCCAGATTGATCTAAATTCCAGATTGAAGAAGAGTAATACAGTAGATTTGGTCTGTGCCACAGTTATTTTTTATTGCAATCTGTTTAGTAACCTCTTGTAGCCGAATGTAGTATTAACTACAAGTAGAGTGTAATTGTCATCCAACACTAGTCCAGGCAGTCAGAGTAAAATGATTCACTTACTAACAACGTTATCCTGCTAGTGAATTCTGATATGAAACTGTTCGGCCACTCAATTCCTGGGATTTCCCCCCTTTTTGTTGTTTTTGTTGTTTTTTTGTTTGTTTGTTTGTTTTGAGATAAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGAGCAATCTCAGCTCACTGCAATCTCCGCCTCCCAGGCTCAAGCAATTCTCCCGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCGTCCTCTACCACGCCTGGCTAATTTTTGTATTTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTCATCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCGGGATTTTCCCCTTTATTCATTTTTCCAAGAGAGGTCACAGAGAAAAATTCAGTGCTAAAGTACCGCTCATTTAGTGGGGTGCCTGTAAACCCCAGGGGCCATTTGGCAATGTCTGGAGACATTTTTGGTTGTTGCCATAGGAAGGCAAAGCAGATGTTATTGGCTTCTAGTGGGTAGGGGTTGGGAAGCTGCTAAACATCCTACAATACACAGGACAGCCCCCCACACAACAAAGAATTCTCTGCCCCAAAATGTCAGTAGTGCCAAGGCTGAGAAACCTGTTCTGTAGCAGGGAGCTGTAGGTGTGATCTTCACCCAAGAAGGAATGTTACCCCTTTTTCATCATTGCTCATTAGGAAGGGTTGGATGTCTGTGTTCTGTCCCAAGCCACCTGCGTGGGACAAGTAAATGCGAACCTCTTGCTTCGTGGAGGCCCATGGACAGAACCAGAAGCATTGAGAAACTTCCCAGAGTACGTGGACTTAGAGGATTATGTCCAAGAAACCTTGCAGTGGGTCTGTCATCTGCTGCCCTCGTTGATTATTCATTAGCTCTCTTACCACTTAGGGAGTGATTACGTACATTCTTATTTTACTTCAGGTCATATGCATGGCTTTCCCTGCTCAGATACGAGGGAAATGGAAGTGCAGGGAGATGAAAGTACAGATTCAGATTCGCTGCCACTTCCCGAGGGCTCCTTCTCGCCCCAGCCCTGTCCTGGGTGGTTTCAGACATGCTGTCTTATTTACTCCTCACCATAATTGTGTGGGGAAGCTTTTATTATTCCCACTGTGCAGACAGTGTTGGCCCTGGTGCACATTTTCTTGATCAAAATCTGTTTTTCTCACTATATTCTGTTGTCTTCCCAGACTGATTCCACATTAGCAGTCTCTTGCATCTTCTTAGTGAATTTAAAAATTCAAAGTACATTGTGATGAACTTCTAAACTTTTTTGCAACCTTTTAACAAGTCTAGCAGTGAGCTGCAGAGTGTTGAAGTTGTAGAGGAAATTTAGCCATATACTGGGTGTCCAAAGGTATAATTACAATGAGCAGTGAGCAGGGGGTCCTGGGAGGTGTTAATGCCCCATCTCTGAGGGCATTTGGACAGAGATTGGATCCGAGTGCTCTTGGGTGGATTCCTGAAAGCCTTTCCCCTTCAGCTCTTCCAGGGAGATGCTGCTGCCGGACAGCCTGGTGGCAGGTGGTGATTTGGTGCTCTCATTGTAACCAATGTCTGTGTTCGACATGTCTTCTTGCTAGGCCTCACTGTTCTGGACTAATAGGAATAATGTTGCATTGCCATTTTTTTTTTAATCCTGCAATTCTAGTTTTTTATTATACTGATTGTGACTTGCCCTCCCCCTCACTCCCTGGCTTTACCCACATTTTCAGGGTACACTGTCCTATAGTGTGGAAATGAGGCTTATGTTGCTGTGGAGAGGGGAGGCACCCAGGCTGCAGATGGGACAAGGAGTGACAGAGCAAGTCGGGTGTCCCGGCTGCGGCACGGCTGTGGGGAGAGAACTGTCTGGAGAGGAGGGCCAGTTTTCCTCACCCTCTTCCCCGCCATCTCCTGTGGCAGCACATGGCTGTGGAGCCACAGCCTGGGCGTCAGAAATGAATATGGCCCACGGGGCAGGAAAGGCGATGGGGATTTTATGTCCATCTCTGCCATCGGGGTCTTAGTTTACTCGTTTGTTAAATGAGATCTTTTTGACCAGGGGATCTCAAGTAAACTTTTTAACTTCAGCACATTTCTGATCTGGTCTTTATTCTCCTCTCTATCTCTCCAGGCTCTGAACTCAGACAGACCAAGTTCAAATTCCATATCTGTCACTACAGCTGTGTGGCCTTAGGCAAGTTGCTTAACCTCCCCCACGTCCCACTAAGCCTCAGTTTCCCCACCTGTGAAATAATAGTATCCACTTCACAGGGTGGTTGTAACCTTTAAACAAAATAGCCTATATAAAATCCATAGCACAGTGGGTGCCTCCATGTCCCCGATGAGTGGTAGCTACGATCTGGCCTCTTTCTTCCCTTTCAGATGTTCCCATCCTAGGCCCTCTTTCTCTGCTTTATTACTGGCAGGTATATGGTCTCTGGTGTTGGTATAGTGCCTGTTAAATGTTGTGAACCACTTCATATGCTTTCTCATTCAGTCCCCCACAGTCACCTCTTTAGTTACACGGGGCAGATGTTATTCTCCCCATTTTGTGGGTGACAAGCCCAAAGCCCAGCAGTTGGCTTTGTCTCTAAGCCATCCCCAGACACGGACAGCCTCATTTAGTTTCCAGGCTTATGTGGACCAATGATGGCAATCCATCCCCCACAGCAGGAGGGGTGCGCAGGTGAACGCACCTGCCCTCGGGTTATGCAGCGAGGCAGCTTCAGCAAAGCCAAGGCATGGAGTCCCCAGTCCGAGCCAGTGCTGGATGTGGCTGTGTGGCTGTGAACTCTCACTGCTGGCTGCATTCACAAGGATCCCCAGCTTGACAGCTGAAAGGCTGGAGAATGCACAACACCCAGAGGCCATTAATTCTGGGAGTAGAATCTGAGTTCACGGAGGCAGCCTGGCTGTGCTACATTGTTGGCTCCTTTAGGAGGAGCCCAGGACAGCCTGACTCTTAAACAGCTGATTTGATCTCTCTGCAATGACAGAAAAACTCTCTGCTCTGAAGTGCCTTGCCACTTTCGAGTGCCTCCCATCTTCAGATTAGCCACTTTCTCCCTGTGTGACCTGATGACACATTTTCTTAAAATGTTTCCTGTTCCTCAGCAAGTTTCATCATTGCTGGTCTCTAACACTTTCTGATGTGCTAAGGTGGCAGTGTTACTGTCATAGTCCTCTTCTTGCCTGGTTGACCATGGCTTTAGGCACATCTGAGGTCTGTCGGCACTGCGACTCCTTCACACTCAGGTTCCTCCCTGCCCCGGGCAGATGACATGAAGCAGAGAGCTCTTGTCCACGAGGTGGAAAAGTAAGCGCCCAGCCTCTTGGAAACAGACCGTAAACAAATCTGTCAGGTAGTGAAAAGAGAAAAATAAAGCCAGGGTGCAGGACCCAGGGATGGGGATGAGGAAGGGCACTTCCCCCACCATGGGAGAATTGTGTCTTCTAGTCTGCAGGACACCTTGTGGGAAAGACTCAATGAAAGAAATGACTGGGTCTTTTGTGCATTGTCTGACTAAAGTAGCCATTTATATATTTTTCTTTTGACATTCCCATGAAATAAAAGCCTCTACTATTGAACATTTTTATATTTAAAATGATATTCTGCACCTTTTTTTAAACTTTATTTTTTTAATTGAGACGGTGTGTCACTATGTTGCCCAGGCTGGTCCTGACTCCTGGGCTGAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTTCACCTGGCCAATCGGCACTATTTTAGAAGAAAAGAGCTAGTATTCAGAATCATAAGCACTTTTTATTAATTTCTACCATTTGTTTGTCTGTATATTGTTTAAATCACCTTTTTCTAGAAATTATCTTCTTGCCCTCAGTTTTTATTTATATCCTCTAGACCTCTGAGATCCTGCAGGTGGCTGTTTGCCTCATACACACCCCTCTTAATTTGCACTAGACATGTAATCGACTACTTGAGTACACTGTCCATTTTGGGATTTATCCATTCTGTAGACTACTCTTTTTTTTTTTTTTTTTAAAGGACAGCCTCCCAAACCAGAACAGGTTCAGAGACTCCACTTCTGTAGATTACTCTTAGCCTCCTTTTCCTGCCAGCCAGCTGAGACCTGGATCATTGACATCAGGGCAAGTAGAGGGGAAGTTGGAGAGAAGAACAAAAGGGGTGTGTAGACCCACCAACTGGATCCAAGGCCTCCCACGGTCAGGGAGAAAAGCTTGGGGTTGTGGCTTAAACACTGGAAAGCGCAGGGCTCTGTATTTTCCCTTTCTCTCAGGTGGGCTTCTCTCAGGAGCAGAGGGACCATGAATGCTGCTAGCGCCCACTGCATGAGTCGTGATTGAATCTTGAGAATCACGGTCATCTGCTCTGGCTTCTCTGCCTTTTCTCCCCAGATTTCCTGCCCCTTCTAGCCCTGGGAGCTTCCAGGCCCTTGAGGAATAGCATATCATTTCCTTGAGTGGGGGCTTCAGTGGGGTGAACAATCTGGGAACCTAGTGAGGAGTCCTGAGGGAATGGGTTTCAGCCCCTCATGCCCTGGACCAGTCTTACACAGTCTTTCAGATCTTTGAAACAAAAGCCTGGAGCTTCTTGATGTGATTTACAGGATACAGATGTACCATGGGCCTTGACTGGTGCTTCTCCAAGTCATCAGCAAATTAGTCCTCACTCTAGTTAACAGGGTTAGTGGTGGTCTGTCAGTGTGGCTGATGAGGACAGACAGGAGGATAAGTGGTTTTCAAGACCTCAGGGTCTGGAAAGGGAATTCAGAAATTTCTGAATGAGCTATCTTGGTCCAAGCCCCCTTCTTCCTTCAGCTCTACCCTCTGTCTCCTGATTACAATCCTTAGAAAAATGATCTGGCTTGGTTTCTGTAGCAAGAGCCTTTCCATTCCTATCGATCTCAAGCTGGTTTAAAGAAAATGTTCCTTTATTTTTTCAAAATAGCTCCCTTTAATCTCTCTCCTCCTCCTTATGCCTAACGTCTCCTTTCAG
Seq C2 exon
AACCTGAGCTGGCTGGAGGAGAAAGAGAAGGAAGTTGTCAGTGCCCTGCGCTACTTTAAGACCATTGTGGACAAAATGGCAATTGATAAGAAGGTACTGGAGATGCTTCCAGGGTCAGCCAGCAAGGTGCTGGAGGCCATCTTACCCCTGGTGCAGAACGATCCTCGAATTCAGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107263:ENST00000372189:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.105 A=NA C2=0.002
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


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

  • Autistic and control brains
  • Pre-implantation embryo development