Special

HsaINT0184673 @ hg19

Intron Retention

Gene
ENSG00000204859 | ZBTB48
Description
zinc finger and BTB domain containing 48 [Source:HGNC Symbol;Acc:4930]
Coordinates
chr1:6647265-6647692:+
Coord C1 exon
chr1:6647265-6647351
Coord A exon
chr1:6647352-6647537
Coord C2 exon
chr1:6647538-6647692
Length
186 bp
Sequences
Splice sites
5' ss Seq
GCAGTAAGT
5' ss Score
9.07
3' ss Seq
CCTGCCTGGTCTGCCTGCAGTGC
3' ss Score
8.8
Exon sequences
Seq C1 exon
TGTTCCTCCTGCTCCCAGCAGTTCATGCAGAAGAAGGACTTGCAGAGCCACATGATCAAACTTCATGGAGCCCCCAAGCCCCATGCA
Seq A exon
GTAAGTGACAGGGAGGGCTGGGCATGCTTTGATGCTGGCATGAGCAAGAGTGAGCTGTGCCCAGAGTGGGCAGCCGGCCATGTACTTTCTGTTGTTCGGGGGGGTGCTTGTGGGTCTCCCAGGCAGCCCTTCCCTGCTCTCACCCTGGCCCTGGTCCCTCCCTCTGCCTGCCTGGTCTGCCTGCAG
Seq C2 exon
TGCCCCACCTGTGCCAAGTGCTTCCTGTCTCGGACAGAGCTGCAGCTGCATGAAGCTTTCAAGCACCGTGGTGAGAAGCTGTTTGTGTGTGAGGAGTGTGGGCACCGGGCCTCGAGCCGGAATGGCCTGCAGATGCACATCAAGGCCAAGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204859-ZBTB48:NM_005341:6
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.034 A=NA C2=0.135
Domain overlap (PFAM):

C1:
PF134651=zf-H2C2_2=PD(29.2=24.1),PF134651=zf-H2C2_2=PU(59.3=55.2)
A:
NA
C2:
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)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTTCCTCCTGCTCCCAGC
R:
CTGTGCTTGGCCTTGATGTGC
Band lengths:
242-428
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