Special

HsaEX0072183 @ 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
chr1:6640601-6641359
Coord C2 exon
chr1:6645979-6646090
Length
759 bp
Sequences
Splice sites
3' ss Seq
TTTCTCTCTCTTGACTCCAGGAG
3' ss Score
9.46
5' ss Seq
GAGGTACTG
5' ss Score
7.67
Exon sequences
Seq C1 exon
CGGAGACGGTGGAGTCTCCGCACTGTCGGCGGGGTACGCATAGCCGGGCACTAG
Seq A exon
GAGCTTTCTCTTGCATACCCTCGCTTAGGCTGGCCGGGGTGTCACTTCTGCCTCCCTGCCCTCCAGACCATGGACGGCTCCTTCGTCCAGCACAGTGTGAGGGTTCTGCAGGAGCTCAACAAGCAGCGGGAGAAGGGCCAGTACTGCGACGCCACTCTGGACGTGGGGGGCCTGGTGTTTAAGGCACACTGGAGTGTCCTTGCCTGCTGCAGTCACTTTTTCCAGAGCCTCTACGGGGATGGCTCAGGGGGCAGTGTCGTCCTCCCTGCTGGCTTCGCTGAGATCTTTGGCCTCTTGTTGGACTTTTTCTACACTGGTCACCTCGCTCTCACCTCAGGGAACCGGGATCAGGTGCTCCTGGCAGCCAGGGAGTTGCGAGTGCCAGAGGCCGTAGAGCTGTGCCAGAGCTTCAAGCCCAAAACTTCAGTGGGACAGGCAGCAGGTGGCCAGAGTGGGCTGGGGCCCCCTGCCTCCCAGAATGTGAACAGCCACGTCAAGGAGCCGGCAGGCTTGGAAGAAGAGGAAGTTTCGAGGACTCTGGGTCTAGTCCCCAGGGATCAGGAGCCCAGAGGCAGTCATAGTCCTCAGAGGCCCCAGCTCCATTCCCCAGCTCAGAGTGAGGGCCCCTCCTCCCTCTGTGGGAAACTGAAGCAGGCCTTGAAGCCTTGTCCCCTTGAGGACAAGAAACCCGAGGACTGCAAAGTGCCCCCAAGGCCCTTAGAGGCTGAAGGTGCCCAGCTGCAGGGCGGCAGTAATGAG
Seq C2 exon
GAAACATACTGGGGAGAAACCCTTTGAGTGTCCCAAATGTGGGAAGTGTTACTTTCGGAAGGAGAACCTCCTGGAGCATGAAGCCCGGAATTGCATGAACCGCTCGGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859_MULTIEX1-1/4=C1-3
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion (Ref, Alt. ATG (<=10 exons))

Show structural model
Features
Disorder rate (Iupred):
  C1=NA A=0.458 C2=0.000
Domain overlap (PFAM):

C1:
NA
A:
PF0065126=BTB=WD(100=45.2)
C2:
PF134651=zf-H2C2_2=PD(72.0=47.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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