HsaEX6066826 @ hg19
Exon Skipping
Gene
ENSG00000185591 | SP1
Description
Sp1 transcription factor [Source:HGNC Symbol;Acc:11205]
Coordinates
chr12:53775443-53800537:+
Coord C1 exon
chr12:53775443-53775597
Coord A exon
chr12:53775894-53777406
Coord C2 exon
chr12:53800369-53800537
Length
1513 bp
Sequences
Splice sites
3' ss Seq
TCTCCCTTATTTTCGGCCAGGAG
3' ss Score
6.82
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
ACCAAGATCACTCCATGGATGAAATGACAGCTGTGGTGAAAATTGAAAAAGGAGTTGGTGGCAATAATGGGGGCAATGGTAATGGTGGTGGTGCCTTTTCACAGGCTCGAAGTAGCAGCACAGGCAGTAGCAGCAGCACTGGAGGAGGAGGGCAG
Seq A exon
GAGTCCCAGCCATCCCCTTTGGCTCTGCTGGCAGCAACTTGCAGCAGAATTGAGTCACCCAATGAGAACAGCAACAACTCCCAGGGCCCGAGTCAGTCAGGGGGAACAGGTGAGCTTGACCTCACAGCCACACAACTTTCACAGGGTGCCAATGGCTGGCAGATCATCTCTTCCTCCTCTGGGGCTACCCCTACCTCAAAGGAACAGAGTGGCAGCAGTACCAATGGCAGCAATGGCAGTGAGTCTTCCAAGAATCGCACAGTCTCTGGTGGGCAGTATGTTGTGGCTGCCGCTCCCAACTTACAGAACCAGCAAGTTCTGACAGGACTACCTGGAGTGATGCCTAATATTCAGTATCAAGTAATCCCACAGTTCCAGACCGTTGATGGGCAACAGCTGCAGTTTGCTGCCACTGGGGCCCAAGTGCAGCAGGATGGTTCTGGTCAAATACAGATCATACCAGGTGCAAACCAACAGATTATCACAAATCGAGGAAGTGGAGGCAACATCATTGCTGCTATGCCAAACCTACTCCAGCAGGCTGTCCCCCTCCAAGGCCTGGCTAATAATGTACTCTCAGGACAGACTCAGTATGTGACCAATGTACCAGTGGCCCTGAATGGGAACATCACCTTGCTACCTGTCAACAGCGTTTCTGCAGCTACCTTGACTCCCAGCTCTCAGGCAGTCACGATCAGCAGCTCTGGGTCCCAGGAGAGTGGCTCACAGCCTGTCACCTCAGGGACTACCATCAGTTCTGCCAGCTTGGTATCATCACAAGCCAGTTCCAGCTCCTTTTTCACCAATGCCAATAGCTACTCAACTACTACTACCACCAGCAACATGGGAATTATGAACTTTACTACCAGTGGATCATCAGGGACCAACTCTCAAGGCCAGACACCCCAGAGGGTCAGTGGGCTACAGGGGTCTGATGCTCTGAACATCCAGCAAAACCAGACATCTGGAGGCTCATTGCAAGCAGGCCAGCAAAAAGAAGGAGAGCAAAACCAGCAGACACAGCAGCAACAAATTCTTATCCAGCCTCAGCTAGTTCAAGGGGGACAGGCCCTCCAGGCCCTCCAAGCAGCACCATTGTCAGGGCAGACCTTTACAACTCAAGCCATCTCCCAGGAAACCCTCCAGAACCTCCAGCTTCAGGCTGTTCCAAACTCTGGTCCCATCATCATCCGGACACCAACAGTGGGGCCCAATGGACAGGTCAGTTGGCAGACTCTACAGCTGCAGAACCTCCAAGTTCAGAACCCACAAGCCCAAACAATCACCTTAGCCCCAATGCAGGGTGTTTCCTTGGGGCAGACCAGCAGCAGCAACACCACTCTCACACCCATTGCCTCAGCTGCTTCCATTCCTGCTGGCACAGTCACTGTGAATGCTGCTCAACTCTCCTCCATGCCAGGCCTCCAGACCATTAACCTCAGTGCATTGGGTACTTCAGGAATCCAGGTGCACCCAATTCAAGGCCTGCCGTTGGCTATAGCAAATGCCCCAG
Seq C2 exon
GTGATCATGGAGCTCAGCTTGGTCTCCATGGGGCTGGTGGTGATGGAATACATGATGACACAGCAGGTGGAGAGGAAGGAGAAAACAGCCCAGATGCCCAACCCCAAGCCGGTCGGAGGACCCGGCGGGAAGCATGCACCTGCCCCTACTGTAAAGACAGTGAAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185591-'2-8,'2-3,5-8=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.506 C2=0.719
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCAAGATCACTCCATGGATGA
R:
CTTTACAGTAGGGGCAGGTGC
Band lengths:
311-1824
Functional annotations
There are 1 annotated functions for this event
PMID: 11904305
This event
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)