HsaEX0072185 @ hg19
Exon Skipping
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:4930]
Coordinates
chr1:6642118-6646847:+
Coord C1 exon
chr1:6642118-6642359
Coord A exon
chr1:6645979-6646090
Coord C2 exon
chr1:6646755-6646847
Length
112 bp
Sequences
Splice sites
3' ss Seq
CCTGTGGCTTCTCCTGGCAGGAA
3' ss Score
10
5' ss Seq
CAGGTACTT
5' ss Score
8.17
Exon sequences
Seq C1 exon
TGGGAAGTGGTGGTTCAAGTGGAGGATGATGGGGATGGCGATTACATGTCTGAGCCTGAGGCTGTGCTGACCAGGAGGAAGTCAAATGTAATCCGAAAGCCCTGTGCAGCTGAGCCAGCCCTGAGCGCGGGCTCCCTAGCAGCTGAGCCTGCTGAGAACAGAAAAGGTACAGCGGTGCCGGTCGAATGCCCCACATGTCATAAAAAGTTCCTCAGCAAATATTATCTAAAAGTCCACAACAG
Seq A exon
GAAACATACTGGGGAGAAACCCTTTGAGTGTCCCAAATGTGGGAAGTGTTACTTTCGGAAGGAGAACCTCCTGGAGCATGAAGCCCGGAATTGCATGAACCGCTCGGAACAG
Seq C2 exon
GTCTTCACGTGCTCTGTGTGCCAGGAGACATTCCGCCGAAGGATGGAGCTGCGGGTGCACATGGTGTCTCACACAGGGGAGATGCCCTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859_MULTIEX1-3/4=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.552 A=0.000 C2=0.065
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=PU(24.0=7.4)
A:
PF134651=zf-H2C2_2=PD(72.0=47.4)
C2:
PF134651=zf-H2C2_2=PU(62.5=48.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCGATTACATGTCTGAGCC
R:
CATCCTTCGGCGGAATGTCTC
Band lengths:
252-364
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)