HsaINT0184674 @ hg38
Intron Retention
Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:HGNC:4930]
Coordinates
chr1:6587478-6588196:+
Coord C1 exon
chr1:6587478-6587632
Coord A exon
chr1:6587633-6588059
Coord C2 exon
chr1:6588060-6588196
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:ENST00000377674:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.114 A=NA C2=0.299
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(38.5=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