HsaINT0184675 @ hg38
Intron Retention
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:HGNC:4930]
Coordinates
chr1:6588060-6588442:+
Coord C1 exon
chr1:6588060-6588196
Coord A exon
chr1:6588197-6588277
Coord C2 exon
chr1:6588278-6588442
Length
81 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
CTCTTGCCTTGTGCCTGCAGCCA
3' ss Score
9.12
Exon sequences
Seq C1 exon
GAATGAGAGGCCACACGTATGTGAGTTCTGCAGCCACGCCTTCACCCAAAAGGCCAATCTCAACATGCACCTGCGCACACACACGGGTGAGAAGCCCTTCCAGTGCCACCTCTGTGGCAAGACCTTCCGAACCCAAG
Seq A exon
GTGAGGTACGCCCTGCCCCTCCCCTCGCCTCCCCATCCTGAGGCCAAGGCCACAGGCTGAGCTCTTGCCTTGTGCCTGCAG
Seq C2 exon
CCAGCCTGGACAAGCACAACCGCACCCACACCGGGGAAAGGCCCTTCAGTTGCGAGTTCTGTGAACAGCGCTTCACTGAGAAGGGGCCCCTCCTGAGGCACGTGGCCAGCCGCCATCAGGAGGGCCGGCCCCACTTCTGCCAGATATGCGGCAAGACCTTCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859:ENST00000377674:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.299 A=NA C2=0.483
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=PD(59.3=34.0),PF134651=zf-H2C2_2=WD(100=55.3)
A:
NA
C2:
PF134651=zf-H2C2_2=WD(100=46.4)
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:
CACCTCTGTGGCAAGACCTTC
R:
CGCATATCTGGCAGAAGTGGG
Band lengths:
181-262
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains