HsaINT0184673 @ hg38
Intron Retention
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:HGNC:4930]
Coordinates
chr1:6587205-6587632:+
Coord C1 exon
chr1:6587205-6587291
Coord A exon
chr1:6587292-6587477
Coord C2 exon
chr1:6587478-6587632
Length
186 bp
Sequences
Splice sites
5' ss Seq
GCAGTAAGT
5' ss Score
9.07
3' ss Seq
CCTGCCTGGTCTGCCTGCAGTGC
3' ss Score
8.8
Exon sequences
Seq C1 exon
TGTTCCTCCTGCTCCCAGCAGTTCATGCAGAAGAAGGACTTGCAGAGCCACATGATCAAACTTCATGGAGCCCCCAAGCCCCATGCA
Seq A exon
GTAAGTGACAGGGAGGGCTGGGCATGCTTTGATGCTGGCATGAGCAAGAGTGAGCTGTGCCCAGAGTGGGCAGCCGGCCATGTACTTTCTGTTGTTCGGGGGGGTGCTTGTGGGTCTCCCAGGCAGCCCTTCCCTGCTCTCACCCTGGCCCTGGTCCCTCCCTCTGCCTGCCTGGTCTGCCTGCAG
Seq C2 exon
TGCCCCACCTGTGCCAAGTGCTTCCTGTCTCGGACAGAGCTGCAGCTGCATGAAGCTTTCAAGCACCGTGGTGAGAAGCTGTTTGTGTGTGAGGAGTGTGGGCACCGGGCCTCGAGCCGGAATGGCCTGCAGATGCACATCAAGGCCAAGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859:ENST00000377674:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.044 A=NA C2=0.114
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=PD(29.2=24.1),PF134651=zf-H2C2_2=PU(59.3=55.2)
A:
NA
C2:
PF134651=zf-H2C2_2=PD(33.3=17.3),PF134651=zf-H2C2_2=WD(100=51.9),PF134651=zf-H2C2_2=PU(38.5=19.2)
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:
TGTTCCTCCTGCTCCCAGC
R:
CTGTGCTTGGCCTTGATGTGC
Band lengths:
242-428
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