HsaINT0184674 @ hg19
Intron Retention
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:4930]
Coordinates
chr1:6647538-6648256:+
Coord C1 exon
chr1:6647538-6647692
Coord A exon
chr1:6647693-6648119
Coord C2 exon
chr1:6648120-6648256
Length
427 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGT
5' ss Score
9.73
3' ss Seq
CCATGTCCCCACCTTAACAGGAA
3' ss Score
8.07
Exon sequences
Seq C1 exon
TGCCCCACCTGTGCCAAGTGCTTCCTGTCTCGGACAGAGCTGCAGCTGCATGAAGCTTTCAAGCACCGTGGTGAGAAGCTGTTTGTGTGTGAGGAGTGTGGGCACCGGGCCTCGAGCCGGAATGGCCTGCAGATGCACATCAAGGCCAAGCACAG
Seq A exon
GTGCGTGTCGCCCGTTCTCTCTTGGGGCCCAGTCCTGCTGCCAGCCCAGGCTTGCACCGGCAGGGAAGACAGAGTTTGCTGACTTTTACACAGATGAGTGTGCCCTTGGCCTCCACCCTGAATCTAGTGCCTACAGCCTCTCTGGGATAGTGGGACCTGAGGGGCAAGCAGCTATGCCAGGCAGAGAGGCTGGGGGCAGATGTTTCAGGCTCAGACAAGCCTCTGTGCCCCCGGGGCAGATTCTGAGCTTCCTTAGTTTCCTGTGACTCCTGCTCATAGATTGTCCTTCTGCTCTCGGGGTGGAGGTGGTGCCCCTTTCCTAGCACTGCCCAAGCCCTCTTTCCACCAGGCATGCTCCTAGCTGTAGCAGAGCAAGGGGGTCACTTCCCTTGGTGATGGCCTCTGCCCCATGTCCCCACCTTAACAG
Seq C2 exon
GAATGAGAGGCCACACGTATGTGAGTTCTGCAGCCACGCCTTCACCCAAAAGGCCAATCTCAACATGCACCTGCGCACACACACGGGTGAGAAGCCCTTCCAGTGCCACCTCTGTGGCAAGACCTTCCGAACCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859-ZBTB48:NM_005341:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.135 A=NA C2=0.064
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=PD(33.3=17.3),PF134651=zf-H2C2_2=WD(100=51.9),PF134651=zf-H2C2_2=PU(37.0=19.2)
A:
NA
C2:
PF134651=zf-H2C2_2=PD(59.3=34.0),PF134651=zf-H2C2_2=WD(100=55.3)
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:
CACCTGTGCCAAGTGCTTCC
R:
CTTGGGTTCGGAAGGTCTTGC
Band lengths:
287-714
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)