HsaINT0167001 @ hg38
Intron Retention
Gene
ENSG00000066654 | THUMPD1
Description
THUMP domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23807]
Coordinates
chr16:20736860-20737956:-
Coord C1 exon
chr16:20737708-20737956
Coord A exon
chr16:20737287-20737707
Coord C2 exon
chr16:20736860-20737286
Length
421 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGT
5' ss Score
9.8
3' ss Seq
TTTTTCTGTTTTTGTTACAGGAA
3' ss Score
12.71
Exon sequences
Seq C1 exon
AGCCTGAGAAATTGGTGCATCATATTCTCCAGGATATGTACAAAACCAAGAAAAAGAAGACTCGAGTTATTTTGCGAATGTTACCCATCTCAGGCACATGCAAGGCTTTTTTAGAAGATATGAAAAAATATGCAGAAACATTTTTGGAACCCTGGTTTAAAGCTCCAAACAAAGGGACATTTCAGATTGTGTACAAATCTCGAAATAACAGTCATGTGAATAGAGAAGAAGTTATCAGAGAATTGGCAG
Seq A exon
GTATGTTTCTCTTAGTGATTTTCCATAGGCATTCAATGGTAAATACTTGTTTTTTAAGGATTTTTTTCTTTTTAAAGATTTAAGGCTTACATTTTTGAGTGTAGAACAAATATATTAAAATGTTCTTAAAATAGTATTAAATCAACTGATTTCAATATGTCGGATATGAGATTTTCTGGTAGTTAGATAAAAGTCTTTTTTAACTCGAAATTGAATTTTGTTTGGAAAAAAATTCTTATTAAATGTTGTAGGGTTTCATTTGTGTTTATTTATTGTAAGGGTTCAGATTATTTGAAGTCCACATAGAAGAGTGGATTACTGTATGTCTTGTTTTAACAAGAAACAGAGACAAAAGATTTTTTGTATCTATCAGATGTAATGGTATCCTCCTCAGCTATGTGTTTTTCTGTTTTTGTTACAG
Seq C2 exon
GAATAGTGTGCACCCTCAATTCAGAAAATAAAGTGGATCTCACCAATCCACAGTACACAGTGGTAGTAGAAATCATCAAAGCTGTCTGTTGCCTGAGTGTTGTGAAAGATTACATGTTGTTTAGAAAATACAATCTCCAGGAGGTGGTGAAGAGCCCTAAGGATCCGTCACAGCTTAACTCAAAGCAGGGAAATGGGAAAGAAGCTAAACTGGAATCTGCGGACAAATCAGACCAAAACAACACAGCAGAAGGAAAAAATAACCAGCAGGTACCAGAGAATACTGAGGAGCTGGGGCAGACAAAACCAACGTCTAATCCACAGGTGGTAAATGAGGGAGGAGCCAAACCTGAACTTGCAAGTCAAGCCACAGAAGGATCCAAGTCAAATGAAAATGACTTCTCATAGGAAGTCATTTGGTGTTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000066654:ENST00000381337:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.622
Domain overlap (PFAM):
C1:
PF0292612=THUMP=FE(57.6=100)
A:
NA
C2:
PF0292612=THUMP=PD(24.3=25.7)
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:
TACCCATCTCAGGCACATGCA
R:
AGCTGTGACGGATCCTTAGGG
Band lengths:
343-764
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains