HsaEX0073243 @ hg19
Exon Skipping
Gene
ENSG00000198105 | ZNF248
Description
zinc finger protein 248 [Source:HGNC Symbol;Acc:13041]
Coordinates
chr10:38126913-38145265:-
Coord C1 exon
chr10:38145224-38145265
Coord A exon
chr10:38142557-38142630
Coord C2 exon
chr10:38126913-38127039
Length
74 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTCTTTTCTTTTTAGCAC
3' ss Score
11.12
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
Exon sequences
Seq C1 exon
CTCTCCTTCCTCCACTAAGAGCGGAAAATGAACAAATCCCAG
Seq A exon
CACTTTAAAAATACCATTCCGGTGGCCGGGCACCGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCCGAG
Seq C2 exon
GAACAAGTGTCATTCAAGGATGTATGTGTGGACTTCACTCAGGAAGAGTGGTATCTGCTGGACCCTGCTCAGAAGATTCTATACAGAGATGTGATCCTGGAAAATTATAGCAATCTTGTCTCAGTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198105_MULTIEX2-3/5=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.200 A=0.625 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0135222=KRAB=WD(100=95.3)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
TCCTTCCTCCACTAAGAGCGG
R:
GACAAGATTGCTATAATTTTCCAGGA
Band lengths:
159-233
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)