HsaEX0072185 @ hg38
Exon Skipping
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:HGNC:4930]
Coordinates
chr1:6580001-6586787:+
Coord C1 exon
chr1:6580001-6582299
Coord A exon
chr1:6585919-6586030
Coord C2 exon
chr1:6586695-6586787
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
TGAGAGGAGTGGGCAGCATCAGGGTTACAGGTGTTTCCCCAGGGCAGTGTTTCCAGCTGAGCTTCCAGTTCCCCACAAACACAGCCACTTTCCTCTGAATCCAAGATTCAGATGCTCTGCCTTGGGCCCCTGAAGGAACTTGTCTGATGAAGGGACTTGTCAGGGTTGGGGCTTGGGATGGAACTGGAGCTGGGTCCCTACAACTCCTGCTGATTCATTTGGTGACGCCACCCCCTCCTGCTGCCTATTGTGCTCTAGTGGGAAGTGGTGGTTCAAGTGGAGGATGATGGGGATGGCGATTACATGTCTGAGCCTGAGGCTGTGCTGACCAGGAGGAAGTCAAATGTAATCCGAAAGCCCTGTGCAGCTGAGCCAGCCCTGAGCGCGGGCTCCCTAGCAGCTGAGCCTGCTGAGAACAGAAAAGGTACAGCGGTGCCGGTCGAATGCCCCACATGTCATAAAAAGTTCCTCAGCAAATATTATCTAAAAGTCCACAACAG
Seq A exon
GAAACATACTGGGGAGAAACCCTTTGAGTGTCCCAAATGTGGGAAGTGTTACTTTCGGAAGGAGAACCTCCTGGAGCATGAAGCCCGGAATTGCATGAACCGCTCGGAACAG
Seq C2 exon
GTCTTCACGTGCTCTGTGTGCCAGGAGACATTCCGCCGAAGGATGGAGCTGCGGGTGCACATGGTGTCTCACACAGGGGAGATGCCCTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859-'6-12,'6-7,9-12
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.369 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)
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