HsaINT0184676 @ hg38
Intron Retention
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:HGNC:4930]
Coordinates
chr1:6588278-6588844:+
Coord C1 exon
chr1:6588278-6588442
Coord A exon
chr1:6588443-6588755
Coord C2 exon
chr1:6588756-6588844
Length
313 bp
Sequences
Splice sites
5' ss Seq
AAGGTACCT
5' ss Score
8.49
3' ss Seq
CGGTGTTCTCCCTCTTGCAGCCG
3' ss Score
11.82
Exon sequences
Seq C1 exon
CCAGCCTGGACAAGCACAACCGCACCCACACCGGGGAAAGGCCCTTCAGTTGCGAGTTCTGTGAACAGCGCTTCACTGAGAAGGGGCCCCTCCTGAGGCACGTGGCCAGCCGCCATCAGGAGGGCCGGCCCCACTTCTGCCAGATATGCGGCAAGACCTTCAAAG
Seq A exon
GTACCTGGGCGGCCCTGGGAGAGCCATTTCCTGCTCATCCGAGTTGGAGGGTCTCTGAGGAGGAAACGCTCCTTTCTTGCCTGTGAACCTCTTTTGTGCCCCACATGGTTAGAGTTGAGAGTGGACCTGCTTTGAAGGCAGGGGTGTCCTGTGCAGTAGTGACCCTGGGTGGCACTGGAGAGCCTGGCAGGGCCTGTGCAGCACTTGTAAACCACTGGTCCCCTCCCTTGCTGCCTGTCCCAACCTCCTGCTGGGTTTCCTCGAGGGTCCCGGGGCTCCTGCATGATCCCCCACGGTGTTCTCCCTCTTGCAG
Seq C2 exon
CCGTGGAGCAACTGCGTGTGCACGTCAGACGGCACAAGGGGGTGAGGAAGTTTGAGTGCACCGAGTGTGGCTACAAGTTTACCCGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859:ENST00000377674:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.483 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=WD(100=46.4)
A:
NA
C2:
PF134651=zf-H2C2_2=WD(100=86.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGCCTGGACAAGCACAAC
R:
CTGTCGGGTAAACTTGTAGCCA
Band lengths:
254-567
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