HsaINT0167000 @ hg38
Intron Retention
Gene
ENSG00000066654 | THUMPD1
Description
THUMP domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23807]
Coordinates
chr16:20737708-20739071:-
Coord C1 exon
chr16:20738897-20739071
Coord A exon
chr16:20737957-20738896
Coord C2 exon
chr16:20737708-20737956
Length
940 bp
Sequences
Splice sites
5' ss Seq
TAGGTGTGA
5' ss Score
2.17
3' ss Seq
AACTTTTTTTTTTTCTTAAGAGC
3' ss Score
6.13
Exon sequences
Seq C1 exon
TTTACAGACAAGGATCAGCAGCCCTCTGGAAGTGAGGGAGAGGATGATGATGCGGAGGCTGCCTTGAAGAAAGAAGTTGGTGACATTAAGGCATCTACAGAGATGAGGTTAAGAAGATTCCAGTCAGTGGAAAGTGGAGCAAATAACGTTGTCTTCATCAGGACACTTGGGATAG
Seq A exon
GTGTGACAAATACTTGCTAAGATTATCGATCTCATAACATCTGGGTATCTTCCTGTCTCAGGGAATACTGCTTACAAAATGGCTTCTTGGGCATGACTCAGTTAATCATTTGATGGCAGCTTCTGTACACTGTATTAGCAGTTGGCCTGTGGAGAGGTAGAATGGGGTGGTGGACGTAGCATTGGCTTATGAGTGGAAACCTGGCTTTGCTGCTTCCTTCGTATATAACTTAAGGCAGAACTAGAGTGCCAGTTCTGTGTAAATAAGGGGCAGCTGCTACTCAGCTCCAGCCAGTTGTTGCTCTTTGGGAATGCAGGGCCAGGTATTTGAATTTCTCAAAAGAAGTTTGAAATCTGGAGTTTTTTTGTTTTTCAGTGTGGTCAACTAATTTACAAATTTTCGGAGCAGCCCCAAATATACTTGTATGTAGGCAAGTTGCAGCCTGAGGACCTCCCTTTCATGATGTTGTGCCCAGCATGGTTCTGGGATTCCTCTTGGGTCTGAGATTTAGACTTGTGTGCTAACTTAGCTAATGGATTAATTACATCTTTTAAAGTGACTCACAGAATTTTTTTTTTTTTTTTTTGTAAAAAAGTGTGTACTGTTTAATGTACTCTGTTGTTACAGGAAAACAACAGCATGGTGTTACGGTTGGATAACTCAGGACATCACAAAAATGTTAACAACGGTGTCTACCTAAACAGTCATTTCTAGTGCAAGCAGTAATAATGATGAAAAGTTAAAATATATTAGATACATTATAGTACGTATTAGGCACTGAAGAAATACTGTTTGGAAAGAATGACTAGGTAGATTCATTTAAAATTCATTATGAGAATTTCTTCTGTCAACTTATGTCATTGCCAGTGAAAATTCATTTTAGAGTTCGATCTTTAAGATGTCTGAGAAATTATCTTCTTAACTTTTTTTTTTTCTTAAG
Seq C2 exon
AGCCTGAGAAATTGGTGCATCATATTCTCCAGGATATGTACAAAACCAAGAAAAAGAAGACTCGAGTTATTTTGCGAATGTTACCCATCTCAGGCACATGCAAGGCTTTTTTAGAAGATATGAAAAAATATGCAGAAACATTTTTGGAACCCTGGTTTAAAGCTCCAAACAAAGGGACATTTCAGATTGTGTACAAATCTCGAAATAACAGTCATGTGAATAGAGAAGAAGTTATCAGAGAATTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000066654:ENST00000381337:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.438 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0292612=THUMP=PU(17.4=42.4)
A:
NA
C2:
PF0292612=THUMP=FE(57.6=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGACAAGGATCAGCAGCCCT
R:
TGTTTGGAGCTTTAAACCAGGGT
Band lengths:
342-1282
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