Special

HsaINT0137420 @ hg19

Intron Retention

Gene
ENSG00000136237 | RAPGEF5
Description
Rap guanine nucleotide exchange factor (GEF) 5 [Source:HGNC Symbol;Acc:16862]
Coordinates
chr7:22200136-22202159:-
Coord C1 exon
chr7:22202015-22202159
Coord A exon
chr7:22200234-22202014
Coord C2 exon
chr7:22200136-22200233
Length
1781 bp
Sequences
Splice sites
5' ss Seq
AAGGTAATC
5' ss Score
7.46
3' ss Seq
CATTTGTCTTTTTTCTCCAGACC
3' ss Score
9.93
Exon sequences
Seq C1 exon
CTATTCTGCTAAGAAGTATCAAGGCAAAGAGGAAAACTCAGACGTTCCGCGTAGGAAACGTAAAGTCTTGCATCTTGTTTCCCAGTGGATTGCTCTGTACAAAGACTGGTTACCTGAAGATGAACATTCAAAAATGTTTTTAAAG
Seq A exon
GTAATCAAACATTTCCAGATATTCTTTGATGCCAAATAACTGATTCTATTTTTAGTTATGCATTTTAAAAATCTCATTTGTAGGTAACAGTCATTCAGCTTTCTTGTGATAGTCAAGTTGTGATTCAGAGAATATTTAAGTTTATTTTGACTTCTGAAGCTTGATATTCTCTATCTAAAAAGTCATGGAAATTTTGATTGCTAATGAAATAATTAAGGAAGGTAAATCAAAACATTCAAAATTTGATATAGCTTAATATGTTGATATTCATTATAAGTTTAAAGTAACCAGTCCTCTATATGTAATATTTGCATAAAACATTATTTATCATTTAAAAACTATATTGACAATGTATGTTCTTTGAAACATTTGTCAGACATGGTATACTTTGAGAATTTTAAGCAATAATTTGTAAAATAGATATAATCTAGTTTTACATTTAGAGTGAGACAAACTGATTTATTTTTTCTAATTAATAGGCTTCAATATCTTTTCAACACAGATGATTATCTGGAGAGATGATTAGTAAGACAGTTGGATTCCTTTGGCCACCAAAATCATATTAAGTCTGCAGGTTAGGACAGAGAAGGAATACAATGGAATTCTAGCAAGGAAGAGTTCTAGTTCAGAGTAGGCAACTGCCTAAATAGACTCAGCCTTTCATGAAGGAAACTACTTTGAATTCAACATTCAGTTGTCATTTAGGCATCCAGTTAAAAACGAGTCTAACCAACTCTTTAAACTCATGTTGTTTGCAAAGCAACTGCTTAATTTAATTCAATTGACTTTTTTCTCCCAAATGATTATGTGGAATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGAGACAGGGTCTTGCTCTGCTACCCAGGCTGCAGTGCAGTGACGCAGTCATAGTTCACTGCAACCTCAAACTCTTGAGCTTGAGAGATCCTTGCACTTCACCCTCCTGACTATCTGGGACTAAAGGCATGCACTACCACACTCAGCTAATTTTTTCTTTTTAGTAGAGATAGAGTCTTGCTTTGTTGCCCAGGCTGGTCTCGTACTCAGCTCAAGCAGTTCTCCCTACTCAGCCTCCCAAAGTGTTGGGATTTACAGCCTGAGCCACCACACCCAACCTATATTATTACTATTATTTATTTATTTGTTTACTTATTTATTTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGATTACAGGCGCCCGCTACCACGCATGGCTAATTTTTTTTTTTTTTTTTTGTATTTTTAGTAGACACGGGGTTTCACTGTGTTAGGCATGATGGTCTCGATCTCCTGAACTCATGATCTGCCTGCCTCAGCCTCCCAAAGTGTTGGAATTACAGGCGTGAGCCACCATGCCCGGCCTATTATTTTTTAAGATATAGAATGGGCTGGAAATCTCTAGTAGCCAGCCAGCTAGGGATCTCTAGAATTCTCTTTCCAGAATTTCCACCTATGGCCCTGAAAGCAGATAGAGAGCCATGGCAGTTGAGAGAGGAGCTGCGAGTTATGATCCCATTCTGGATCTCATTGGCACCTGGTGAAACCCGTACATTGTCCTGAATCCCTCCTTATTTCCTGTGTTAGGATAGCCATGGTATGAGTCTTAATCCCTACAAAATGGGCATTCAACCACTGAGCTCTCATTTGTCTTTTTTCTCCAG
Seq C2 exon
ACCATATATAGGAATGTACTGGATGATGTTTATGAATATCCAATACTTGAAAAAGAATTGAAAGAATTTCAAAAGATACTTGGAATGCACCGTCGTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136237-RAPGEF5:NM_012294:13
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.068 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0061815=RasGEF_N=FE(43.6=100)
A:
NA
C2:
PF0061815=RasGEF_N=PD(12.7=27.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGCTAAGAAGTATCAAGGCAA
R:
GACGACGGTGCATTCCAAGTA
Band lengths:
238-2019
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