HsaEX6009106 @ hg38
Exon Skipping
Gene
ENSG00000158560 | DYNC1I1
Description
dynein cytoplasmic 1 intermediate chain 1 [Source:HGNC Symbol;Acc:HGNC:2963]
Coordinates
chr7:95810392-95977601:+
Coord C1 exon
chr7:95810392-95810506
Coord A exon
chr7:95869883-95869998
Coord C2 exon
chr7:95977512-95977601
Length
116 bp
Sequences
Splice sites
3' ss Seq
TTATTCTTTGTTACTTACAGAAG
3' ss Score
8.5
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
Exon sequences
Seq C1 exon
GCTGATATGCAGCAGAAGAAAGAACCCGTTCAGGACGACTCTGATCTGGATCGCAAACGACGAGAGACAGAGGCTTTGCTGCAAAGCATTGGTATCTCACCGGAGCCGCCTCTAG
Seq A exon
AAGAAGACTGCATAAACTGGGCGTGTCAAAGGTCACCCAAGTGGATTTCCTGCCAAGGGAAGTAGTGTCCTACTCAAAGGAGACCCAGACTCCTCTTGCCACGCATCAGTCTGAAG
Seq C2 exon
AGGATGAGGAAGATGAGGAAATGGTGGAATCTAAAGTTGGCCAGGACTCAGAACTGGAAAATCAGGACAAAAAACAGGAAGTGAAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000158560_MULTIEX2-4/8=C1-6
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.935 A=0.464 C2=1.000
Domain overlap (PFAM):
C1:
PF0099215=Troponin=PD(42.2=69.2),PF0076914=ERM=FE(35.2=100)
A:
PF115403=Dynein_IC2=WD(100=82.5)
C2:
NO
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGATATGCAGCAGAAGAAAGAACC
R:
TTTTGTCCTGATTTTCCAGTTCTGA
Band lengths:
186-302
Functional annotations
There are 1 annotated functions for this event
PMID: 11148209
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: circular dichroism, competition binding, mutation analysis, nuclear magnetic resonance, pull down. ELM ID: ELMI000092; ELM sequence: YSKETQT; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains