Special

HsaEX0064919 @ hg19

Exon Skipping

Gene
ENSG00000066654 | THUMPD1
Description
THUMP domain containing 1 [Source:HGNC Symbol;Acc:23807]
Coordinates
chr16:20739216-20748608:-
Coord C1 exon
chr16:20748182-20748608
Coord A exon
chr16:20747592-20747680
Coord C2 exon
chr16:20739216-20746809
Length
89 bp
Sequences
Splice sites
3' ss Seq
AACATTTGTGTGTAATATAGCTG
3' ss Score
5.5
5' ss Seq
AAGGTTGGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GAATAGTGTGCACCCTCAATTCAGAAAATAAAGTGGATCTCACCAATCCACAGTACACAGTGGTAGTAGAAATCATCAAAGCTGTCTGTTGCCTGAGTGTTGTGAAAGATTACATGTTGTTTAGAAAATACAATCTCCAGGAGGTGGTGAAGAGCCCTAAGGATCCGTCACAGCTTAACTCAAAGCAGGGAAATGGGAAAGAAGCTAAACTGGAATCTGCGGACAAATCAGACCAAAACAACACAGCAGAAGGAAAAAATAACCAGCAGGTACCAGAGAATACTGAGGAGCTGGGGCAGACAAAACCAACGTCTAATCCACAGGTGGTAAATGAGGGAGGAGCCAAACCTGAACTTGCAAGTCAAGCCACAGAAGGATCCAAGTCAAATGAAAATGACTTCTCATAGGAAGTCATTTGGTGTTGGAG
Seq A exon
CTGACAGTCCAGTGTCGCAATTTTGGAAGGCAAGATGTGAGAGAGACGAGAACCATTTTAGGCATAGAACTACAGACATTTCTGAAAAG
Seq C2 exon
AGATGCTGATATCAAAAACTTGAAGATACAGTGAAGTTCTGAATAATGTTACAAAACTGGTTACCTGTATCAAAGACCCATTTATGCAAAAATGTTAAAAAAAAAAAAAAACACCCAAAACAAAAACCTGGACAGACAGCACATAAACCTCCTGCACCATACAGACATCCAGTGGCTTCTCAGAGGAAGCGTTCTCTACAGGATATTTGAATTGAAAGGTGAATTGCCAGAGTACTTACAATAAAACAGCCAGCTTTTGCTGAGTGCTTTGGAAATGAAAAATGACTACAGAAAGTAGCCTATTTTGCAGACGTTTTTCATCACATGAACAAATGGACAAGTCTCTGAAAGGTTCTGGGGAAAAAAATTTTTCTTAAAGCGACAAGACTCTTAGATCTAAAAGGAAACTGACTTGCCACCTTGCCAGAGGAATTCTTGAAATGTTTCTGCAGCCACTTGGCCTTGAAAATAAAGGGTGCAACTCTCAAATCTTGTTCTAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000066654_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

3' UTR

No structure available
Features
Disorder rate (Iupred):
  C1=0.622 A=NA C2=NA
Domain overlap (PFAM):

C1:
PF0292612=THUMP=PD(24.3=25.7)
A:
NO
C2:
NA


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAAGTCATTTGGTGTTGGAG
R:
TGGTGCAGGAGGTTTATGTGC
Band lengths:
181-270
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
  • Pre-implantation embryo development