HsaINT0018985 @ hg38
Intron Retention
Gene
ENSG00000204347 | BTBD17
Description
BTB domain containing 17 [Source:HGNC Symbol;Acc:HGNC:33758]
Coordinates
chr17:74359969-74361946:-
Coord C1 exon
chr17:74361735-74361946
Coord A exon
chr17:74360246-74361734
Coord C2 exon
chr17:74359969-74360245
Length
1489 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
TGTGTTCCTTCCTGCTGCAGCAC
3' ss Score
9.96
Exon sequences
Seq C1 exon
GGAGGGAGGCCAAGCAGGAAGGGGGGTGCCGTCCCCTTGTGCCGGATCCTATATAAGGAAGAGGGATGTGAGCAGAGTGGTCTGGGCTTCACCGTCCCTCCAGTGGACTTGGGGGCTGAGCATAAAGATGCCTAGGAGAGGCTACTCCAAGCCTGGGTCCTGGGGCAGCTTCTGGGCCATGCTGACCTTGGTGGGCCTGGTCACCCATGCAG
Seq A exon
GTGAGCGGGCAGTGGGCCAGGTGCGGGGCAGGGTGGAGCGGCAGGTCGTCCCAGCCCTGGCTGCACGCGGCCGGCCAGGAGGGGGCGGTGTCCAGCTGCTGGGGAGAGCACGGGGTGGACCGGACAGCTCCACGGACTCATCTGTCTGAAGGAAGGAGGGGCCTGGCAGGCAGGTGGGCAGGGCTCTTAAGGACAAGAGGACCCTCCATTGCCCATTGTCCTGGGCAGAGGCTGAATGGGGACGCCATCAGCATTCAGGTCCTTCAAAGTGACAGCTGGGGAAGGCCGTGCTGGGAAACATACTACCCGCTTCTCTTTCACCCTCCCTTTGTCCCTCGGCCTCCCTCTCTCATGCACAGATGCTCTGCTCCTGTGTGAGCCTTCTCTCCTGTGTGCACCACGGGCCTGCATGTGCTGTGCGTGCACATGTGGCTGCGGCCCATCTGCTGCAATCAGGCCCCCGCCCGCCTCCCTCTGCGAGGCTCCCCTCGCTGTTCTCGGCTTGGGAAAGCTGCTGACAGTTTCTATAACTGAGTGCATATCCCCATCTGACTGTCGGGGCATCCTGGAGCATAAGCAAAGGGCCGGCCTGGCCAGCCTCAATGCTCAGTTACCCAGGAAGTTCTATTCCAGCACCAGCTGGCCCTTCGCACTTTCTCCTGTCCCCTGCTGGCCACCCCAGAAAATCGGCTTCTGTCTCAGAGATCAGGACCCAAGAGGGCAGGGCTGGGCCTGGAAAACAGCTTCCCTTCCACACCCGCAGCCTCGTCTCACACCCGCCCCTCTCTCCTGCTACTGCTGTGGCCTCCCTAATGCTCTCTCTGCTCCCAGTACCCCAGGCCCATTCCGTTCAAGGGCCTTTGCGGGGCTGGAGCCTGCCTTGACACTGGTTCCCTGGCTGGCTCCTTTAAAACTGGAGTGCTTATTTGTGTGTGTCTTACCCGTTTGATATGTCAATTCGTGCTTTTATGAGCATAAGAACTTGGCTTGCTTTGTCCACTGCCACATCCCAAGCTCTTAGGAGAATGTCTAGCATATAGTAAGTGCTCAATAAATATTTGTTAGTGAATGCACCACTTCTGACTACTGCTCCAAGGGGTTAGATGGATAATTCTTTAGGAAGTGAGAAGGGTGGGACCACGAGTTTCCTCAACCCTTGCCTGGGGGGCTGGCAGCATGGAGATGAGTTCTGGGCATGTTGTCCTAAACCTGAGCACAACCTCCCCCTGCCTGAATGCACCCCCTTCCAAGAGCATCCTCTTGGGGTTTGCATTGGCATGACCTTCCCACCCAGGGTGCGTTTGTATGTGCACCGATGCATCCACGCGCCTCGTGGGCACAAACAGGTATGCACATACAACCCGCCTAGGCCCACCTTGCCCTCTGCTCACACCCATGCATATGTCTCCAGCTGGTCCCTCTCCACCCCTGACTGAGGTTCTGGGCCCGGGCACCTTCTCAGGCTATGCTGTGTTCCTTCCTGCTGCAG
Seq C2 exon
CACAGAGAGCCGATGTTGGCGGGGAGGCAGCTGGCACCTCCATCAACCACTCCCAGGCGGTGCTCCAGCGCTTGCAGGAGCTGCTGCGGCAGGGCAACGCCAGCGATGTGGTTCTGCGGGTGCAGGCTGCGGGCACCGATGAGGTCCGGGTATTCCACGCCCACCGCCTGCTGCTGGGACTGCACAGTGAGCTGTTCCTGGAGCTGCTAAGTAACCAGAGCGAGGCGGTGCTGCAGGAGCCACAGGACTGCGCCGCTGTCTTCGACAAGTTCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204347:ENST00000375366:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.103 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0065126=BTB=PU(61.8=73.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAGGGATGTGAGCAGAGTGG
R:
AGCTCCAGGAACAGCTCACTG
Band lengths:
358-1847
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development