Special

HsaEX6007448 @ hg38

Exon Skipping

Gene
ENSG00000136237 | RAPGEF5
Description
Rap guanine nucleotide exchange factor 5 [Source:HGNC Symbol;Acc:HGNC:16862]
Coordinates
chr7:22140025-22147019:-
Coord C1 exon
chr7:22146897-22147019
Coord A exon
chr7:22145044-22145222
Coord C2 exon
chr7:22140025-22140115
Length
179 bp
Sequences
Splice sites
3' ss Seq
ATGAATACATTTTCTTTCAGCAA
3' ss Score
6.23
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
Exon sequences
Seq C1 exon
AACCCATTTGCAGAAAATGAGGAATCACAGCAAAGGTCGATGAGGATTTTGGGAATGAACACTTGGGATCTTGCTCTGGAATTAATGAATTTTGATTGGAGTCTATTCAATTCAATTCACGAG
Seq A exon
CAAGAGCTGATCTACTTCACGTTCAGCAGACAGGGAAGTGGGGAACACACTGCAAATCTCAGCCTTCTGCTCCAGAGATGCAATGAGGTCCAGCTTTGGGTGGCCACGGAGATTCTGCTCTGCAGCCAGCTGGGCAAGCGAGTGCAGCTGGTGAAAAAATTCATCAAAATTGCGGCTCA
Seq C2 exon
CTGCAAAGCCCAGAGAAACCTGAATTCTTTCTTTGCCATTGTGATGGGTCTCAACACTGCTTCTGTCAGTCGACTGTCGCAGACCTGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136237-'59-61,'59-57,61-61=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0061714=RasGEF=PU(13.0=58.5)
A:
PF0061714=RasGEF=FE(31.9=100)
C2:
PF0061714=RasGEF=FE(16.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAGAAAATGAGGAATCACAGC
R:
CAGGTCTGCGACAGTCGACT
Band lengths:
202-381
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains