Special

HsaINT0136381 @ hg38

Intron Retention

Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:17155]
Coordinates
chr9:123070350-123073677:+
Coord C1 exon
chr9:123070350-123070424
Coord A exon
chr9:123070425-123073551
Coord C2 exon
chr9:123073552-123073677
Length
3127 bp
Sequences
Splice sites
5' ss Seq
CATGTGAGT
5' ss Score
7.83
3' ss Seq
AACTTGCCTATCTGTTACAGATG
3' ss Score
7.9
Exon sequences
Seq C1 exon
GCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCAT
Seq A exon
GTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCCCTCAGCTTATACTAACCTTAGGCTTGAGCATGGTTTTATATTGGGTTTGGACAGACTCTTAAGGCATGAATTTTAACACCTATAGCTGGAAACTTTTTCCTTAAATTAACTTAATGTCATTGTGGAGGAGATATATGATGAGAATAAACGGCAATGTTGAAAACTGGTACAGGGGTAGACTTCCTTTTTATTAATAGGATGATTGGAGAGACTTTAATGTTGGTTGAACTCTTGGGGACGTTTTATCTTCTCTAAAGTAGCCGCTGTCATTAATACTTGTTTTGAGATTTAGGTATTGGGGTAGGAGGAAGGCGGAAAAGTTGGTTTTCTTTTAGTACCATTTTATTCATTCATTGGCTTAGCAAACACCTTTGCCCTCCACCTTTTTTATTTTCTTTCAAATCCACAGAAAACTCTAAACAGTGTTAAGGTGAACAGTCTTTATCTAGTTTACCAATTAATATTTTCCACACTGCTTTTTCTGTTTGTCTCCCTCTGCATCTCTTTTTTTCTCTTTTCTGCATAAACACACATTTTCTTTTTTACTTAAATTGTTTTTTGAAATTATTCTTGAAAGTAAATAACAAACATCAAGACTTCTAAATACTTGATCATATATATGCCTTCTGGGAGCACAGAATTCTGTATCATAATCATAATACCATGATCACATCCAAGAAATTCCACATTGATTCAGTAATGTCTGATACACAATACACATTCAATTTTCTCCCAATTGTCTACTCCATAGAATCTAGCTTTTTTTCTAATCAAGATCTAATGAAGATTCAAATATTGAATTGTCATTTCTCTTTATTCTTTTAATCTAAATTACTCCTTTGCCTTTTTTTGTGTTTCATGCCATTGATAGTTTTGAAAAATTCAGACAAATTGTCATATAAAATGTCCCACAGTCTTGATTTGTCTCATTTTCTCATGATTCAGTTTAAAATGCTTGGCAAGAATACCACACAGGTGATGTCAGCAAAGAGTTTTGAGTACCTGTTATGATCTGTACTGTGCTGAAGATCAGAGGTAAATAAGAGACATGGTCTCAATCCTCCTGGATACAGAGCTTGTGAATCCAACTAGCTTTAAGCACATAATCACACAAGTATATCATTTATTACTTTCAGTGGTGCTATTAAGGTATAATAAAAAGTTTGGTGTAAGATTGTAACAAGGGAGTCTTACTTAGATTAAAGGCTTCTCAGGGGAAGTGACCTGTAAGGAGCAGCCTGGAAAATGATAAGGGATATCATTTTCTTTTGCTCTTTTCTGTGTTAACTTTTCAAAATGTTGTTATGAAAATAATAGATCTATTTGAAAAGGGAGTAGAGAATAGAGTGTTAATGGGAAAGTGAATGGTACAGTATACAGAAGTCCTAAACTGGGGAAACACTTGGTGTATGGGAGGAACTGAAAGGAGGACAGTGTGACTGGAGTATCCTGAGTGACTGGGAGTTGAGGAGAGAGCTAGGGAGAGCTTTGAAGCCCAGATAAGGAGTCTGAATCTTGCTTTTCTAAGCAACAGGTATTCAAGGGTATTAAGCCATTTTGTGTAGATTGCAATACAAGTTTGAGTATCCCTTATTTGAAATGCTTGGGACCGGAAGTGTTGTGGATTTTGGATTTTGGATTTTGGAATATTTGCATTATACCGGTTGAGCATCCCAAATCCAAAAATCCAAAGTGTTCCAATGAGCATTTCCTTTTAGCATCATGTCAGTGTTTAAAAAGTTTCAGATTTTGGAGCATTTTGTATTTTCAGATATGGGTTGCTCAACCTGTACAAGTAAAACAAAAACCACTTTGGTTTTTCTTAACTGAACCCAGCTTGTTGCTATTGGTAGTCATGTAAAAATATGATAAAGCTATGACATGAATAAAGAGGTTGACTTTTTATTTTGTTTTGTTGTTTTAATGAGACTTTATATCTCAAAGTCCCACAAGCCTGGGTGATTTATCTTCGTTCTCACCTTCAGTTCAAGGACATTTATCCCCTTGAAAATGGGTTTTCCAATCAGACCCTCCATGTCTTGTTTTGAACTCTTGCTGCTTGCCAGAGTGTTATAAGTGCTTGTTTAGAGTGAGGGGAGATGGGCTACTTAGCATCAGAATCACCACTGTGGGTTAGGCCACATCTCCTTGCATGTGGCAAAGTGAAGTTGCCTTCCATGACAAAGACTTCAAAGATCTGGGCTTTTGCCCCAGATACTCTTAACTTACCAGTAATGATCTGCTATGCTTTTCTCACTTATTACTTAATCTGATTTGCTCTTTAGTTCTGCTTTCTTCTCAGTGATTTCTGTGCTCAGCCCGCCTCCATCATCTTGTTCCATAGAAGCCTGCCCACCTTCTTGACTTTTTTGAAGGCTTGCTACATTCACACCAATCCTTAAATAACATTTCCAGTGCTTCTTTTTTCTCTTTTGAAAATATCTTGCCAAGTTCTCAGGGAAATAATTATCCATAAAACTATGGAAAATGTAGGTATTATTATAAATGTAAATAGAAGTGAAGGAGGCTTTTGTAGTACTTCAAGCATTACTGCAAGCCTTAGAATATGTAAGGTTCTTCTAAAACAAGCTATATTTTTAACAGTGAGGAAGAAAAACAATTTTGCTAGAATGAAATAGCAGCTAAGGGAGGAAAAATGGTTAAACAGAGGTCCCAGGATTTGGGAAAGATGACACCTACACTGTATATCAGCCTATTTCTGCTCAGCTCAAATTCTGTCCTTTCTACAAAGTCTGTTTCTGACTGCCTTAGGCAGATACAGGCCTTCCTGTTCTTGTATTATCACTGATGTCTAATTCCTATTACAGTTATTTTAATACTGGCTGTGTGAGAGACTCCTTGAGGACAGGAACCATACTGACAAAGAGTAGTCATTGTTAACTATTCCTTGTTTGAGTGAATAAATGTTTTAAACACAACCTTAGGCCTGAGTTTCTGCATAGCACTAAATTTTCTGGTAAGGCAATAATATAAAGCTGGATTTAATATCCTGAGAAAACTTCTGTATGTTTTGTGATTCCCCACCGCCATCCTCCCTACCCAACAACTTGCCTATCTGTTACAG
Seq C2 exon
ATGCCTGAAGAACAGGCATTCAGTGTTCTGGTCAAGATCATGTTTGACTATGGGCTCAGGGAACTTTTCAAGCAAAACTTCGAAGATTTGCATTGCAAATTTTACCAGTTGGAGCGCCTCATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454:ENST00000373647:15
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:
PF0056613=RabGAP-TBC=FE(11.8=100)
A:
NA
C2:
PF0056613=RabGAP-TBC=FE(20.1=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development