HsaEX0051794 @ hg38
Exon Skipping
Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1 like [Source:HGNC Symbol;Acc:HGNC:24663]
Coordinates
chr1:174250475-174252590:+
Coord C1 exon
chr1:174250475-174250632
Coord A exon
chr1:174251790-174251846
Coord C2 exon
chr1:174252480-174252590
Length
57 bp
Sequences
Splice sites
3' ss Seq
TGGATTTCACTGTTTTACAGGCA
3' ss Score
7.97
5' ss Seq
CAAGTAAAC
5' ss Score
1.87
Exon sequences
Seq C1 exon
GTAAGCAGAATTTTGTACAGTTTCTGTACAGCATTCAAACGTTCTTCCAGACAAGTGTCTGATGTTAAAGACTCAGTTATTCCTACCCCCGACAGTGATGTGTTTACCTTCAGTGTCTCCTTGGAGGTAAAAGAAGACGATGGAAAAGGAAACTTTAG
Seq A exon
GCACTTATGACCACCCAACCAGCTAAACCAGACATGTGACAGTCTTAAGAACTTCAA
Seq C2 exon
CCCTGTGCCTAAGGATAGAGATAAATTTTATTTCAAATTAAAGCAAGGAATAGAGAAGAAGGTTGTGATTACAGTGCAGCAACTTTCTAACAAAGAATTAGCTATTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061_MULTIEX4-1/10=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.052 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0064018=PID=PD(13.6=32.1),PF124733=DUF3694=PU(1.5=3.8)
A:
NO
C2:
PF124733=DUF3694=FE(27.8=100)
Main Inclusion Isoform:
ENST00000251507fB5699
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTTCAGTGTCTCCTTGGAGG
R:
TGCTGCACTGTAATCACAACCT
Band lengths:
133-190
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development