HsaINT0184671 @ hg38
Intron Retention
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:HGNC:4930]
Coordinates
chr1:6585919-6586787:+
Coord C1 exon
chr1:6585919-6586030
Coord A exon
chr1:6586031-6586694
Coord C2 exon
chr1:6586695-6586787
Length
664 bp
Sequences
Splice sites
5' ss Seq
CAGGTACTT
5' ss Score
8.17
3' ss Seq
CTTGCCCCTCACACTGCCAGGTC
3' ss Score
8.4
Exon sequences
Seq C1 exon
GAAACATACTGGGGAGAAACCCTTTGAGTGTCCCAAATGTGGGAAGTGTTACTTTCGGAAGGAGAACCTCCTGGAGCATGAAGCCCGGAATTGCATGAACCGCTCGGAACAG
Seq A exon
GTACTTGGGAGCTGGCCCAGGTACTTGTGGGCAGGGCACACTGGCCTCTCTGTCTTCGTGCCATCCGGGAAGGGCCCCAGGAGACTGTCTGAGAGGGGTACTGTAAACTCAGGAAAGCTGTGGGGTCCTTGGATGTCATGAGGTCCATGCCCTGGTACAGGTGGGGACACAGGTCCTGAGGGCGGAAGGGACAGGCATAGGAGGGACTCTGTGGGAGGCATTTGGGGTTGGCTTTCCTAGGCCCCTGGCCCACCTCCACCTTGGCTTTGGAGAAGGGGAGCCGCTACAGGGGATGGCAGCTGGGAAAGGCCCCCTGGCCACCCCCAGCAACCCCACTGCTGGCTTCTGTGTCAGGGCCCGCCGAAACCCAGGCCCACTCTTCCTAGAGGCCTGTCAGCAGCCACTAGGGCCAGGGACTGTGGGTGAGGCCACTCGGACCCTGCCCCCAGTCTGTCTGGGCCTGAGAAGGGCCTGGTGTGCGGTGGGCTTGCAGCACTCAGTGATGGTCAGGCCAGGCAGGTTATGTGTTGCCCTCTCCCACCCTAGCGTCCCCACCCTCCCCAGGCAGACTCTTCCCAGCAGCAAGCGGAAGCCCGGGCAGAGGCTGCTGTCATAGGCAGAGGCCCCCGCTGATGCCGGCCCTGCTTGCCCCTCACACTGCCAG
Seq C2 exon
GTCTTCACGTGCTCTGTGTGCCAGGAGACATTCCGCCGAAGGATGGAGCTGCGGGTGCACATGGTGTCTCACACAGGGGAGATGCCCTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859:ENST00000377674:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.065
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=PD(72.0=47.4)
A:
NA
C2:
PF134651=zf-H2C2_2=PU(62.5=48.4)
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:
GGAGAAACCCTTTGAGTGTCCC
R:
GCATCTCCCCTGTGTGAGACA
Band lengths:
185-849
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