HsaEX0072183 @ hg38
Exon Skipping
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:HGNC:4930]
Coordinates
chr1:6580048-6582299:+
Coord C1 exon
chr1:6580048-6580136
Coord A exon
chr1:6580607-6581299
Coord C2 exon
chr1:6582058-6582299
Length
693 bp
Sequences
Splice sites
3' ss Seq
TCTGCCTCCCTGCCCTCCAGACC
3' ss Score
9.93
5' ss Seq
GAGGTACTG
5' ss Score
7.67
Exon sequences
Seq C1 exon
GGGTACGCATAGCCGGGCACTAGGTTCGTGGGCTGTGGAGGCGACGGAGCAGGGGGCCAGTGGGGCCAGCTCAGGGAGGACCTGCCTGG
Seq A exon
ACCATGGACGGCTCCTTCGTCCAGCACAGTGTGAGGGTTCTGCAGGAGCTCAACAAGCAGCGGGAGAAGGGCCAGTACTGCGACGCCACTCTGGACGTGGGGGGCCTGGTGTTTAAGGCACACTGGAGTGTCCTTGCCTGCTGCAGTCACTTTTTCCAGAGCCTCTACGGGGATGGCTCAGGGGGCAGTGTCGTCCTCCCTGCTGGCTTCGCTGAGATCTTTGGCCTCTTGTTGGACTTTTTCTACACTGGTCACCTCGCTCTCACCTCAGGGAACCGGGATCAGGTGCTCCTGGCAGCCAGGGAGTTGCGAGTGCCAGAGGCCGTAGAGCTGTGCCAGAGCTTCAAGCCCAAAACTTCAGTGGGACAGGCAGCAGGTGGCCAGAGTGGGCTGGGGCCCCCTGCCTCCCAGAATGTGAACAGCCACGTCAAGGAGCCGGCAGGCTTGGAAGAAGAGGAAGTTTCGAGGACTCTGGGTCTAGTCCCCAGGGATCAGGAGCCCAGAGGCAGTCATAGTCCTCAGAGGCCCCAGCTCCATTCCCCAGCTCAGAGTGAGGGCCCCTCCTCCCTCTGTGGGAAACTGAAGCAGGCCTTGAAGCCTTGTCCCCTTGAGGACAAGAAACCCGAGGACTGCAAAGTGCCCCCAAGGCCCTTAGAGGCTGAAGGTGCCCAGCTGCAGGGCGGCAGTAATGAG
Seq C2 exon
TGGGAAGTGGTGGTTCAAGTGGAGGATGATGGGGATGGCGATTACATGTCTGAGCCTGAGGCTGTGCTGACCAGGAGGAAGTCAAATGTAATCCGAAAGCCCTGTGCAGCTGAGCCAGCCCTGAGCGCGGGCTCCCTAGCAGCTGAGCCTGCTGAGAACAGAAAAGGTACAGCGGTGCCGGTCGAATGCCCCACATGTCATAAAAAGTTCCTCAGCAAATATTATCTAAAAGTCCACAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859-'2-4,'2-3,3-4
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
Show structural model
Features
Disorder rate (Iupred):
C1=NA A=0.458 C2=0.409
Domain overlap (PFAM):
C1:
NA
A:
PF0065126=BTB=WD(100=45.2)
C2:
PF134651=zf-H2C2_2=PU(24.0=7.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGTACGCATAGCCGGGC
R:
TATTTGCTGAGGAACTTTTTATGACA
Band lengths:
310-1003
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development