Special

HsaEX0072184 @ hg19

Exon Skipping

Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:4930]
Coordinates
chr1:6640077-6646090:+
Coord C1 exon
chr1:6640077-6640130
Coord A exon
chr1:6642118-6642359
Coord C2 exon
chr1:6645979-6646090
Length
242 bp
Sequences
Splice sites
3' ss Seq
TGCTGCCTATTGTGCTCTAGTGG
3' ss Score
7.12
5' ss Seq
CAGGTAAAC
5' ss Score
7.82
Exon sequences
Seq C1 exon
CGGAGACGGTGGAGTCTCCGCACTGTCGGCGGGGTACGCATAGCCGGGCACTAG
Seq A exon
TGGGAAGTGGTGGTTCAAGTGGAGGATGATGGGGATGGCGATTACATGTCTGAGCCTGAGGCTGTGCTGACCAGGAGGAAGTCAAATGTAATCCGAAAGCCCTGTGCAGCTGAGCCAGCCCTGAGCGCGGGCTCCCTAGCAGCTGAGCCTGCTGAGAACAGAAAAGGTACAGCGGTGCCGGTCGAATGCCCCACATGTCATAAAAAGTTCCTCAGCAAATATTATCTAAAAGTCCACAACAG
Seq C2 exon
GAAACATACTGGGGAGAAACCCTTTGAGTGTCCCAAATGTGGGAAGTGTTACTTTCGGAAGGAGAACCTCCTGGAGCATGAAGCCCGGAATTGCATGAACCGCTCGGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859_MULTIEX1-2/4=C1-3
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.552 C2=0.000
Domain overlap (PFAM):

C1:
NA
A:
PF134651=zf-H2C2_2=PU(24.0=7.4)
C2:
PF134651=zf-H2C2_2=PD(72.0=47.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAGTCTCCGCACTGTCG
R:
CTGTTCCGAGCGGTTCATGC
Band lengths:
157-399
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