Special

HsaEX0053620 @ hg19

Exon Skipping

Gene
Description
RAP1 interacting factor homolog (yeast) [Source:HGNC Symbol;Acc:23207]
Coordinates
chr2:152267774-152273202:+
Coord C1 exon
chr2:152267774-152267852
Coord A exon
chr2:152271337-152271433
Coord C2 exon
chr2:152273075-152273202
Length
97 bp
Sequences
Splice sites
3' ss Seq
ATGTGATTTTGTTTTTGTAGACT
3' ss Score
8
5' ss Seq
CAGGTAGAT
5' ss Score
7.25
Exon sequences
Seq C1 exon
TCGTATGACTGGAGAAGAAGGAAAAGAAGTAATTACAGAAATTGAGAAAAAACTTCCTCGGCTGTACAAAGTTTTAAAG
Seq A exon
ACTCACATTTCCAGTCAAAACTCGGAGCTGAGTAGTGCTGCTCTACAAGCCCTGGGGTTTTGCTTATATAATCCCAAAATTACCTCAGAATTATCAG
Seq C2 exon
AGGCAAATGCTCTAGAATTGCTTTCAAAATTGAATGATACCATTAAGAATTCAGACAAAAATGTACGTACTAGAGCACTTTGGGTGATATCTAAGCAGACATTTCCCTCTGAAGTGGTTGGCAAAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080345_MULTIEX2-1/3=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.173 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF032249=V-ATPase_H_N=FE(30.2=100),PF122313=Rif1_N=FE(36.6=100),PF053776=FlaC_arch=PU(48.5=59.3)
A:
PF032249=V-ATPase_H_N=FE(22.4=100),PF122313=Rif1_N=FE(14.5=100)
C2:
PF032249=V-ATPase_H_N=FE(29.4=100),PF122313=Rif1_N=FE(19.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGTATGACTGGAGAAGAAGGA
R:
ATCACCCAAAGTGCTCTAGTACG
Band lengths:
167-264
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