Special

HsaEX0053622 @ hg19

Exon Skipping

Gene
Description
RAP1 interacting factor homolog (yeast) [Source:HGNC Symbol;Acc:23207]
Coordinates
chr2:152273075-152276893:+
Coord C1 exon
chr2:152273075-152273202
Coord A exon
chr2:152273321-152273415
Coord C2 exon
chr2:152276704-152276893
Length
95 bp
Sequences
Splice sites
3' ss Seq
TTATTTGGTTCGTTTTTTAGGTA
3' ss Score
11.58
5' ss Seq
AAGGTATGC
5' ss Score
9.55
Exon sequences
Seq C1 exon
AGGCAAATGCTCTAGAATTGCTTTCAAAATTGAATGATACCATTAAGAATTCAGACAAAAATGTACGTACTAGAGCACTTTGGGTGATATCTAAGCAGACATTTCCCTCTGAAGTGGTTGGCAAAATG
Seq A exon
GTATCCAGTATAATTGATTCATTAGAAATACTGTTTAACAAAGGAGAGACGCATTCTGCTGTTGTTGATTTTGAAGCATTAAATGTTATCGTAAG
Seq C2 exon
GCTAATTGAACAAGCCCCAATTCAAATGGGAGAAGAGGCAGTGAGGTGGGCAAAACTGGTCATACCTTTAGTGGTTCATTCAGCACAAAAGGTACATTTGCGGGGAGCAACTGCTCTGGAGATGGGAATGCCATTATTGCTTCAGAAACAGCAAGAAATAGCATCTATTACGGAGCAGCTTATGACTACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080345_MULTIEX2-3/3=2-C2
Average complexity
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:
PF032249=V-ATPase_H_N=FE(29.4=100),PF122313=Rif1_N=FE(19.1=100)
A:
PF032249=V-ATPase_H_N=PD(4.9=21.9),PF122313=Rif1_N=FE(14.1=100)
C2:
PF122313=Rif1_N=FE(28.6=100),PF122313=Rif1_N=PU(2.8=4.7)


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:
ACGTACTAGAGCACTTTGGGT
R:
GCTCCCCGCAAATGTACCTTT
Band lengths:
172-267
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