HsaINT0184676 @ hg19
Intron Retention
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:4930]
Coordinates
chr1:6648338-6648904:+
Coord C1 exon
chr1:6648338-6648502
Coord A exon
chr1:6648503-6648815
Coord C2 exon
chr1:6648816-6648904
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-ZBTB48:NM_005341:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.196 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=WD(100=46.4),PF134651=zf-H2C2_2=WD(100=46.4),PF095265=DUF2387=PU(9.4=10.7)
A:
NA
C2:
PF134651=zf-H2C2_2=PD(0.1=0.0),PF134651=zf-H2C2_2=WD(100=86.7),PF095265=DUF2387=FE(45.3=100)
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)