Special

HsaINT0184668 @ hg38

Intron Retention

Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:HGNC:4930]
Coordinates
chr1:6588756-6589280:+
Coord C1 exon
chr1:6588756-6588844
Coord A exon
chr1:6588845-6588915
Coord C2 exon
chr1:6588916-6589280
Length
71 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGC
5' ss Score
9.88
3' ss Seq
GAGCTCACCCTCCCCGCCAGGCC
3' ss Score
4.96
Exon sequences
Seq C1 exon
CCGTGGAGCAACTGCGTGTGCACGTCAGACGGCACAAGGGGGTGAGGAAGTTTGAGTGCACCGAGTGTGGCTACAAGTTTACCCGACAG
Seq A exon
GTAGGCCAGGGCCTGGGCCCCTTCCCCTACCCTAGGATCCCCCAAAGTTCTGAGCTCACCCTCCCCGCCAG
Seq C2 exon
GCCCACCTGCGGAGGCACATGGAGATCCACGACCGGGTAGAGAACTACAACCCGCGGCAGCGCAAGCTCCGCAACCTGATCATCGAGGACGAGAAGATGGTGGTGGTGGCGCTGCAGCCGCCTGCAGAGCTGGAGGTGGGCTCGGCGGAGGTCATTGTGGAGTCCCTGGCCCAGGGCGGCCTGGCCTCCCAGCTCCCCGGCCAGAGACTGTGTGCAGAGGAGAGCTTCACCGGCCCAGGTGTCCTGGAGCCCTCCCTCATCATCACAGCTGCTGTCCCCGAGGACTGTGACACATAGCCCATTCTGGCCACCAGAGCCCACTTGGCCCCACCCCTCAATAAACCGTGTGGCTTTGGACTCTCGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859:ENST00000377674:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.071
Domain overlap (PFAM):

C1:
PF134651=zf-H2C2_2=WD(100=86.7)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACAAGGGGGTGAGGAAGTTT
R:
GCCACCACCACCATCTTCTC
Band lengths:
167-238
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