HsaEX0072186 @ hg38
Exon Skipping
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:HGNC:4930]
Coordinates
chr1:6585919-6587291:+
Coord C1 exon
chr1:6585919-6586030
Coord A exon
chr1:6586695-6586787
Coord C2 exon
chr1:6587205-6587291
Length
93 bp
Sequences
Splice sites
3' ss Seq
CTTGCCCCTCACACTGCCAGGTC
3' ss Score
8.4
5' ss Seq
AAGGTCAGG
5' ss Score
6.23
Exon sequences
Seq C1 exon
GAAACATACTGGGGAGAAACCCTTTGAGTGTCCCAAATGTGGGAAGTGTTACTTTCGGAAGGAGAACCTCCTGGAGCATGAAGCCCGGAATTGCATGAACCGCTCGGAACAG
Seq A exon
GTCTTCACGTGCTCTGTGTGCCAGGAGACATTCCGCCGAAGGATGGAGCTGCGGGTGCACATGGTGTCTCACACAGGGGAGATGCCCTACAAG
Seq C2 exon
TGTTCCTCCTGCTCCCAGCAGTTCATGCAGAAGAAGGACTTGCAGAGCCACATGATCAAACTTCATGGAGCCCCCAAGCCCCATGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859-'9-13,'9-12,11-13
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.065 C2=0.044
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=PD(72.0=47.4)
A:
PF134651=zf-H2C2_2=PU(62.5=48.4)
C2:
PF134651=zf-H2C2_2=PD(29.2=24.1),PF134651=zf-H2C2_2=PU(59.3=55.2)
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:
GGAGAAACCCTTTGAGTGTCCC
R:
TTGGGGGCTCCATGAAGTTTG
Band lengths:
177-270
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