Special

HsaINT0137316 @ hg19

Intron Retention

Gene
ENSG00000107263 | RAPGEF1
Description
Rap guanine nucleotide exchange factor (GEF) 1 [Source:HGNC Symbol;Acc:4568]
Coordinates
chr9:134467484-134471760:-
Coord C1 exon
chr9:134471685-134471760
Coord A exon
chr9:134467571-134471684
Coord C2 exon
chr9:134467484-134467570
Length
4114 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGG
5' ss Score
8.76
3' ss Seq
GCATTGTTTTTTCCCTCTAGATT
3' ss Score
10.85
Exon sequences
Seq C1 exon
GGTGATGACGGGCCGGACGTCCGCGGAGGATCTGGGGACATCTTACTGGTCCATGCTACTGAGACTGACAGGAAAG
Seq A exon
GTAGGGTGTCAGTGAGCTCACTAGATTGGGGCTGGTCCTGCCCCGGGTGCCACTCGGCCTCCCACCGCTATCCTGTCCCCTCCTGGCAGCCACAGCCCTGAGCAGGTCTGATCAGCAGTCCTGGTGCGCCTGAGTCAGAGCAGGGAGAGCCCACCTTGGAAGACAAGTAGATCATGTTCAACTCCAGGCGTGCGTGGCATCTGTCCTCCGCTGGTACAAGGTAGTGACCCCAGGGCCTCCAGGGTCCTTGAGGGGCTCAGCGCATACTAAGCGCACCACAGACAGCGCCTTGAGTGATGGCATGTCACCCAGTAGTACTAAACTTAAGATAACATGCAGGTACCTTTTGATTCCTTTCCTGACTGCTGAGTCACTCTATTGTTGCAGACCATTAGACCGGACTTCACTCACATACTCCACGAGGAAATTCTTGAAGGTTTGTTCTGTCCAGGAACCTTCAATTCTGTAGCAGTGGCCTCAGTTTCACAGCACACAGCTGCCCCACCCTACCACGCATTCAGTGTGCTGATTGAGAGGGCTGGAAAAGCAGGGACCGTCCCCTAATCCCTAAAACGTCTTGTTGGGTGGACTCTGCTAGCAAAGTCATTCCCAGTCATGCTCTGGAAAGGAGGTGCTAGTGACCTGATGGGGCATGGCCACAGCACCCTTCACTGCCTGCCCTCAAGGGGCCAGCACCACCTGGCCGGCCAGTCTCTCCACACGCTGCTTCTCTTTTTACGTTTAAAAAAATGATTTAAAAGATGATGTCAGAGCAATGGTGAAGTAAATTGTGGAGGGAATGAAAACACCCCCACCTTGAAATCCTAGCCCAACCCGTTTCATTTCTGTAAGGGACTCTGTCCCTGTGTTTCCTCAGCACGTTTCCCAAAACATGTGACCCAGAGTGACTCGGGGAATTTCTGAATTATGGAAGTAGTACTAAAAAATATTTACATTGCAGAAAATTAGAGAAAAAGAAGAGATGGCTCCCACAAACTCACCGCAGCCACTGCTCCGCCCTCCCCTTCACTGTTCCCTCACCCTTTGTTTGTTCTGACCAGGGCAGGGCCCAGACCTGGCGATGCTGCATCCTAGCCCCAGCTGTGCCATGACAGGCTCAGAGGGCCCCTGGGCAGTCCCCGGGCTTCTCGGCCTGAGCCGACTCCACTTGTTGAAGGGGTGAACGGTGCCTGTTGTTGTGTGGATTACGTGAGGGAGTGTGAAACCTGCCCCGCATGTCAGCGGTGCTGGGGGCGTGATCAGCAGCATCCTGAGCGCCGAGTGCAGCCCTTGCTTGGCTTCTCTGCAGTGAATCCCCCTCCCTGCCTGACATAGGGGGCTCCATACTCAGCCAGGCATGGGAGCGACTTTCATTTCCTTTTTGTCCACAGCGAGGGGCTGAAATGGGAGCTGGCTTCAGACCTCGGCTCCAAAGGGTGAACTCCACTGTCCTGTCGGGTACAGCCAGCTGTGGCCAAGGCTGGAGGGGTCCCTGAGACAGGACAGCCAAGAGGCTTCTGGCTTTTGCTGGCTGGACCTGCTGAGAGGACGCTCCGTGCCGGTGGGAGCTTTGCCTGATTTTACTAGCAGAAGGGTTGGAGGCTCCCCAGAACCAAAGTTTTACGTAGGAAGTATTACTGAGGCAGAAGCCATGGCTCCACTGGGAGGGTGAAGCACCCTGTGGCAGGTAACAAAGCAAGCTCCTTGGGCAGGTGCATCCTGCAAGCCAGAGACTGCACCAGCATCACGAGCAGCTGGGAGCCCCGTGGCTCAGGCCCGTGGAGCCCAGCCTGCCAAGCAGGGCTTGGCAGGGAGAGGCCGTGTGGGGGTGCTTTGTGGTTGCACGGCTCTGCTCTCAGGTGTCAGGACCTGCATGGGAGAAGGTCAGGTCAGCCTTGGCCTCAGGCCTCAGCTTAGATCCTGTCTATCCCTTGACAACTGTGTGCCAAGCCTGTCACTTAGCCCCGGAGCTTCCGATTCCTTAGGAGGAAAATGAGGGACAATTTCGGGGCCTTTTAGGGCTGTCTCAAAGACCAGGTGAGCCAGGGCGCACAGAGTGCTCAGGACCGCATCGAGAGTCCTGTGATCTCTAGAGGGGTGGCACAGCACTGCCCGTCCCAGAAGCCAGGCGCTGTCCCATCTGCCATAATCCAGGGCACAGCAGATGGGGGAGGGCTCTGGAATTGGGCAGACATGGGCGCCGACCCCGCCACATTGCTTGCGGGTGGTGTGGCCTCGTGCCTGGGCTCCTCCTCTCTCGGTAGGGTAACAGGACTCTGTCCTTGTGGGATTGCTCTGGGCATTGAAGGATGTGGCATATGTTCAAGGCATGGCCCAGTGCTCACCAGCGAGTCCCACGAAGTTGTCATGGCTACTGGCAATGATGCACCCGCAAAGGCCAGTTGACTTGGGCCCCTTCTTCCAGAAGCAGGTATGGGTCTATGCTGGTGCCATCTCTGCTTCCTTCCCCAAACTCTTTGAACAAAAATCCAAGCTTGACAGTGAACTGGGTGGGTGTGGGGGCCGAGGAATGAGCCTGAGCACAGTGCGGATGGGCCCTGCTGTGATTCCCAGCCCGGAGCCTCCTTCACCTGCCAGCCCCACCCCACGCAGCCCCCAGTGCAAGAGCAGGCGTGGGTTTTCCTCTCGTTTGATGCAAGAGGGGATGGGGCAAGGGTGGGGGCAGGAGCCAAGCCAGCATGACTCAGCTGGAGATGTGGGTTCCTCGAGATTCCTCTACCCAGCAGCTCGGGAATGAGGGAGAAGGTGGGAGCAGGTGGTCTATGTCCAGAGCACAAGATTTAAGCAGTGCGTGTTTGCACCCAGCCTCACAGTGAGAAGCACAGCTGCGGAGCCTCCTTGGGCCTCACACCTCAGCAGGCACGGGGGGTGGCTGCAGGGAGTGAGTCTGGCCACCCGTTGGCTCAGGCAGTGTCCTACATTTTAAAATTCCACTTCATTCTGTAATATCAGAGACAGCACAGTTGAGAAGGTGTCACCACAGCAAATAAATAGGGCTGTTGTAATTCTGGAAAGTCTGGGAGTCCCTGACTGGTACCAGCCCCCTCTAAGAGGAGGCAGGCATGGAGAGGTGAGGGGTAAGCTGGAGCTGCCAGCCCACACCTGCCCAGTGGCTGGCACCATGCCTCTCCTTGGTACCCGGCCCAAGCCGTGCCTCTTCAGCCTATCCCTTAGGACCCAAAACGTGGAATTTCCCCGGATTTTTCTGATTGGACCCTACCATCTAAAAGTACTGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCTGAGTGAATCACTTGAGGCCAAGAGTTTGAGACTAGCCTGGCCAACATGGTGAAACCTTGTCTGTATTAAAATCAGCCAGGCGTAGTGGCGCGTGCCTGTGGTCCCAGCTACTCGGGAGGCTTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTGGCAGTGAACCAAGATCGCACCACTGCACTCCAGCCTGAGTGATAGAGTGAGACCCTGTCTCGAAAATAATAATCATAATAAAAATTTAAAAATAAAAGTAAAGCCTAGGGTTTCATTTCAGGATCCTGCTGACGGGTTTGAACAGACGATTTTCTTTGTTCCCATGATGGCTGAGACCCTCTGAAGCATAAAGCCTTAGGACAGGCAGAGCCTCTCAGAGTCTAATCCAGGGCTGGCTCCTACCTGGAACAGGCATGCCACCGGGTTTTGATGCCTAGGGCAGGCGTCACTCGTCAGCCTAAGTGCCCTTTTCCGCTGGGACCAGAGTTGGCCTCAGCTCCCACAGCACGGTTCTCCAGGCAGCACCATCATCGGTAGAAAGTGCCCATGAGATAAAACCCTTTCCTGTTTCCCCTCTCTGATCTGCCGTTTCCTTTGAGAGATGGACAGAGAGGACGTGTGACTTCTCTGGGACATGCAGGCGGAGACACCAGAGGGGGTTCCCAAGCCCTCGGCTCCCTCGCCCATCCCACTCCCCGTGCCATCTCCCCTGCCTCTCTCAGAGCAAGGACTCAAATCCACCCTGGCTACCACCCCCCAGCACTCTGCACCCAGACAAGCAGTTTGCATTGTTTTTTCCCTCTAG
Seq C2 exon
ATTTGGTGTTGTACTGCGAGGCATTCCTGACCACCTACAGGACCTTCATCTCCCCAGAGGAGCTCATCAAGAAGCTGCAGTACAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107263-RAPGEF1:NM_005312:14
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.542 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0061815=RasGEF_N=PU(20.0=76.9)
A:
NA
C2:
PF0061815=RasGEF_N=FE(28.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
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