Special

HsaINT0137481 @ hg38

Intron Retention

Gene
ENSG00000108352 | RAPGEFL1
Description
Rap guanine nucleotide exchange factor like 1 [Source:HGNC Symbol;Acc:HGNC:17428]
Coordinates
chr17:40184581-40188978:+
Coord C1 exon
chr17:40184581-40184678
Coord A exon
chr17:40184679-40188865
Coord C2 exon
chr17:40188866-40188978
Length
4187 bp
Sequences
Splice sites
5' ss Seq
AAAGTGAGG
5' ss Score
4.44
3' ss Seq
CCCAGCTGTGTCCATGCCAGGAT
3' ss Score
6.52
Exon sequences
Seq C1 exon
GATCTATACCTGCTAATTATGAAGGACGAGTCCCTTTACCAGGGCCTCCGAGAGGACACTCTGAGGCTGCACCAGCTGGTGGAGACGGTGGAACTAAA
Seq A exon
GTGAGGGGGAGTGGGGCAGGGGCGGGAACAGGAAAGTGGTCCCCTGCGTTCCTCTACTACAGGGGCTGCCTCTGGCCTATTGGCTGCAATATGGATTTGCTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTTTGTCGCCTAGGCTGGAGAGCAGTGGTGCGATCTCGGCTCACAGCAACCTCCACCTCTTGGGTTGAAGTGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGGTGCACCATGCCCAGCTAATTTTTGTACTTTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGTCTGGCTTCCAATATGGTTTTATTTCAGCTCCTTTCTCTCACTGAAGGGTGGCACAAAGCACTGTCTCCAGTCACTTTTTTGTCCATTCTCCCATTCATTTGTCTGATAATCCAGTGGTGTACTGGTAAATATTTAACAACCAGTGCTGCAGGAGAAAGAGCCCTGATTTGTAGCTTTTGCTGATTCCTACAGTGTAAACTCTGTCACCATGGCTGATTTCAAGCTACCAATGTGACAACACTGAAAGAGGAGTTGGGAAGAGACATGCAGCACAGGCTGTTATGTAGTATCTCCACCATACAGTAGATGTAGTAAAAGGTAGTAAAATGGCTGGGCAAGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGTCAAGATGGGTGGAGCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATTGTGAAACCCTGTCTCCACTACAAAAAAAAAAAAAAAAAAAAAGGCTGTGTGCCAAGGCAGGCAGATCATGAGGTCAGGAGTTTGAGAGCAGCCCGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGGGCGCTCCTGTAGTCCCAGCTACTTGGGAGGGTGAGGCAGAAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCTGGGGGTGGTGGTACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAAATCACCTTACTGCACTACAGCCTGGGTGACAGAGCGAGACTCCGTCTCTAAAGAAAAAAAAAAAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCATGAGAGGCAGATCATGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATGTCTTGAATCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATTGCATCACTGCATTCCAGCCTGGGTGACAGAGTGGACTCCGTCTCAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGTTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGAATGAGGTCAAGAGATCGAGACCATCCTGGCCAACACGGTGAAACCCTGTCTGTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTACACACCTGTAATCCCAGCTACACGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTACAGTGAGCCGAGATTGCAGCACTGCACGCCAGCCTGACAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGTAGTGAAAACAGGAAGGAAACTGTTTTTTTGGTAACAACTTATTTGATTATAAATTTTATGTATTATTTATTAATTTGTATTATTATTTTTTAATAGAGACGGTTTCATTATGTTGTCCAGGCTGGGCTCCAGCAATCCTCCCACCTTGGCCTCCCAGAGTGTTGGGATTCTAGGTGTAAGCCACCACACCTGGCCTGACTATAAGTTTATAAAACATATATATTTATATATGGAGATATATTTGTTTATTTATATTTTAATGGCTCTTTAAAAAACAGTTGGTAAAATTCCCCAGAACTTAACAGTATGCTCTTGTGAGCCAGTGTGAACCAGCTTCAGGACACCACTGTATCCATCCATCCATGAATCCATTCTGCCCTTTTAGTTTCTCTCTTCTCTTGTCCCCACCACCACAACCCTTAGGGAGGCCTCAGCTTGTGGTCTAGCATCCTTCTCTGCCTTCTCTGTGCTGACACTAGAGAGATCTTTCATGCTCCTGTTCCAAAGGCATCCCTGCTCCCCATGCTTCCAAGAGAAAGTGAAACATCCCAGCATTCAATACCCTTCCCTTTCTGCCTTCTGCTGATCCTTCCCATCTCATCTCCTACATCCCCTCCATCCATGACACCTCAACTCCTGCGCTCTCGAACTTCCCATGGTCGGTTATATTGTCCACCCCAGAATGCCCTCCTCCCACCATGTTTTCTTTTTTTTTTGAGACAGAGCCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCTCTACCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTATATTTTTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTAGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCAGGCTGGAGTGCATGGCGTGATCTCAACTCACTGCAACCTCCCCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACTACGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCTCCACCTCCTTCTCTTCCTGCTTTCCTCCAAGGCCCAGGTCAAATGCCATCTTCTCAATGAAAACTTCCCAGATCTTCCTTTTAGGAATAGCTTTCTTCTTCCCCCACACCAGCATAACTCTCCTGGTACCTTTGTTATATTATCAACACCTCCTGCCTGGTATTAGAAGTAGCTGTATGCCTGTCTATCTCCTTCCTAGACTGTGAAGTTCTTTTCAGCAAAATTCAGCAAACAGCTGCTGACCTACTACCTACCATGTGTCAAGCAGTGTGTTAGGCCCTGGTGGATGAAAAGATACTCAGTAAGAACCAAATCCCAGTCCTCAAGAGCTCTCAATCTCATAGAAGAGATAAGAGGTGAACATAAACATTATCCCAATGTTCTATAGTAGTTGAGAGAAGAAAGTGACCTTCCTGGTGGGTGGGGTGGATCAGAGAAGAATTCATGGAAGAGGTGGCATTTGATTAGGGTTACTTGGATAATTATCCCATACTGCTCATTGTCCTCTCTTCTGACCCCCTTAACCACCTGAAATTGCTGCTGGTGCATCCTTGACCCAATTCTGATATTCTTGCTTGATGTTGCCTGCTTGGTGTTGGTTGTCCATATGCCTGGCAGGGCGTGCTGATGCCCAGCTGTGTCCATGCCAG
Seq C2 exon
GATTCCAGAGGAGAACCAGCCACCCAGCAAGCAGGTGAAGCCACTCTTCCGCCACTTCCGCCGGATAGACTCCTGTCTGCAGACCCGGGTGGCCTTCCGGGGCTCTGATGAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108352:ENST00000613811:4
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=0.089
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0078818=RA=PU(2.6=5.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
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