HsaEX6066826 @ hg38
Exon Skipping
Gene
ENSG00000185591 | SP1
Description
Sp1 transcription factor [Source:HGNC Symbol;Acc:HGNC:11205]
Coordinates
chr12:53381659-53406753:+
Coord C1 exon
chr12:53381659-53381813
Coord A exon
chr12:53382110-53382218
Coord C2 exon
chr12:53406585-53406753
Length
109 bp
Sequences
Splice sites
3' ss Seq
TCTCCCTTATTTTCGGCCAGGAG
3' ss Score
6.82
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
ACCAAGATCACTCCATGGATGAAATGACAGCTGTGGTGAAAATTGAAAAAGGAGTTGGTGGCAATAATGGGGGCAATGGTAATGGTGGTGGTGCCTTTTCACAGGCTCGAAGTAGCAGCACAGGCAGTAGCAGCAGCACTGGAGGAGGAGGGCAG
Seq A exon
GAGTCCCAGCCATCCCCTTTGGCTCTGCTGGCAGCAACTTGCAGCAGAATTGAGTCACCCAATGAGAACAGCAACAACTCCCAGGGCCCGAGTCAGTCAGGGGGAACAG
Seq C2 exon
GTGATCATGGAGCTCAGCTTGGTCTCCATGGGGCTGGTGGTGATGGAATACATGATGACACAGCAGGTGGAGAGGAAGGAGAAAACAGCCCAGATGCCCAACCCCAAGCCGGTCGGAGGACCCGGCGGGAAGCATGCACCTGCCCCTACTGTAAAGACAGTGAAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185591_MULTIEX1-2/7=C1-5
Average complexity
ME(2-3[99=97])
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.579 C2=0.719
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGGGGGCAATGGTAATGGTG
R:
TTACAGTAGGGGCAGGTGCAT
Band lengths:
243-352
Functional annotations
There are 1 annotated functions for this event
PMID: 11904305
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: classical fluorescence spectroscopy, mutation analysis, protein kinase assay. ELM ID: ELMI001445; ELM sequence: IIRTPTV; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains