HsaINT0184669 @ hg38
Intron Retention
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:HGNC:4930]
Coordinates
chr1:6580541-6582299:+
Coord C1 exon
chr1:6580541-6581299
Coord A exon
chr1:6581300-6582057
Coord C2 exon
chr1:6582058-6582299
Length
758 bp
Sequences
Splice sites
5' ss Seq
GAGGTACTG
5' ss Score
7.67
3' ss Seq
TGCTGCCTATTGTGCTCTAGTGG
3' ss Score
7.12
Exon sequences
Seq C1 exon
GAGCTTTCTCTTGCATACCCTCGCTTAGGCTGGCCGGGGTGTCACTTCTGCCTCCCTGCCCTCCAGACCATGGACGGCTCCTTCGTCCAGCACAGTGTGAGGGTTCTGCAGGAGCTCAACAAGCAGCGGGAGAAGGGCCAGTACTGCGACGCCACTCTGGACGTGGGGGGCCTGGTGTTTAAGGCACACTGGAGTGTCCTTGCCTGCTGCAGTCACTTTTTCCAGAGCCTCTACGGGGATGGCTCAGGGGGCAGTGTCGTCCTCCCTGCTGGCTTCGCTGAGATCTTTGGCCTCTTGTTGGACTTTTTCTACACTGGTCACCTCGCTCTCACCTCAGGGAACCGGGATCAGGTGCTCCTGGCAGCCAGGGAGTTGCGAGTGCCAGAGGCCGTAGAGCTGTGCCAGAGCTTCAAGCCCAAAACTTCAGTGGGACAGGCAGCAGGTGGCCAGAGTGGGCTGGGGCCCCCTGCCTCCCAGAATGTGAACAGCCACGTCAAGGAGCCGGCAGGCTTGGAAGAAGAGGAAGTTTCGAGGACTCTGGGTCTAGTCCCCAGGGATCAGGAGCCCAGAGGCAGTCATAGTCCTCAGAGGCCCCAGCTCCATTCCCCAGCTCAGAGTGAGGGCCCCTCCTCCCTCTGTGGGAAACTGAAGCAGGCCTTGAAGCCTTGTCCCCTTGAGGACAAGAAACCCGAGGACTGCAAAGTGCCCCCAAGGCCCTTAGAGGCTGAAGGTGCCCAGCTGCAGGGCGGCAGTAATGAG
Seq A exon
GTACTGTGCCCAGGGTGTTGGGACTGGGGAGACAAATAGAGGGAATAGACACTTTTTTGGTATAATAGGGACCCTGGGCTGGGTGTGATGGCTCACTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGGGGGTGGATCACTTTAGCTTGGGAGTTCGAGACCAGCCTGGGCAACATGGCGAGGCCTCATTTGTACAAAGACTATACAAAAATTAGCCGGGTGTGGTGGCACACACCTGTAGTCCTAGCTACTCAGGAGGGTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTGGAGGTTGCAGTGAGCTGAGATGGTGCCACTACCCTCCAGCCTAGGCGACAGAGCAAGATCCTGTCTCAAAAAAAAAAAAAAAATATGTGGACCTTAAGACAATCTCTGTTAATGTGGGTTTGGAACAGGCTTTCTCCAAAGGAAGCTGGTGACCTCAGGCTGACCTTTCTGCAAGCCCCAGCTGTTCACGGTTGCCACCTTCCTGAGAGGAGTGGGCAGCATCAGGGTTACAGGTGTTTCCCCAGGGCAGTGTTTCCAGCTGAGCTTCCAGTTCCCCACAAACACAGCCACTTTCCTCTGAATCCAAGATTCAGATGCTCTGCCTTGGGCCCCTGAAGGAACTTGTCTGATGAAGGGACTTGTCAGGGTTGGGGCTTGGGATGGAACTGGAGCTGGGTCCCTACAACTCCTGCTGATTCATTTGGTGACGCCACCCCCTCCTGCTGCCTATTGTGCTCTAG
Seq C2 exon
TGGGAAGTGGTGGTTCAAGTGGAGGATGATGGGGATGGCGATTACATGTCTGAGCCTGAGGCTGTGCTGACCAGGAGGAAGTCAAATGTAATCCGAAAGCCCTGTGCAGCTGAGCCAGCCCTGAGCGCGGGCTCCCTAGCAGCTGAGCCTGCTGAGAACAGAAAAGGTACAGCGGTGCCGGTCGAATGCCCCACATGTCATAAAAAGTTCCTCAGCAAATATTATCTAAAAGTCCACAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859:ENST00000377674:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.458 A=NA C2=0.409
Domain overlap (PFAM):
C1:
PF0065126=BTB=WD(100=45.2)
A:
NA
C2:
PF134651=zf-H2C2_2=PU(24.0=7.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCCCAGAATGTGAACAGCC
R:
GGCTCAGACATGTAATCGCCA
Band lengths:
346-1104
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