HsaEX1038549 @ hg38
Exon Skipping
Gene
ENSG00000185591 | SP1
Description
Sp1 transcription factor [Source:HGNC Symbol;Acc:HGNC:11205]
Coordinates
chr12:53409362-53416446:+
Coord C1 exon
chr12:53409362-53409561
Coord A exon
chr12:53410927-53411435
Coord C2 exon
chr12:53413518-53416446
Length
509 bp
Sequences
Splice sites
3' ss Seq
TCTTTTCTTCCTTTACCTAGGTG
3' ss Score
10.82
5' ss Seq
AAGGTGGGA
5' ss Score
6.03
Exon sequences
Seq C1 exon
GGGCTCGGGGGATCCTGGCAAAAAGAAACAGCATATTTGCCACATCCAAGGCTGTGGGAAAGTGTATGGCAAGACCTCTCACCTGCGGGCACACTTGCGCTGGCATACAGGCGAGAGGCCATTTATGTGTACCTGGTCATACTGTGGGAAACGCTTCACACGTTCGGATGAGCTACAGAGGCACAAACGTACACACACAG
Seq A exon
GTGAGAAGAAATTTGCCTGCCCTGAGTGTCCTAAGCGCTTCATGAGGAGTGACCACCTGTCAAAACATATCAAGACCCACCAGAATAAGAAGGGAGGCCCAGGTGTAGCTCTGAGTGTGGGCACTTTGCCCCTGGACAGTGGGGCAGGTTCAGAAGGCAGTGGCACTGCCACTCCTTCAGCCCTTATTACCACCAATATGGTAGCCATGGAGGCCATCTGTCCAGAGGGCATTGCCCGTCTTGCCAACAGTGGCATCAACGTCATGCAGGTGGCAGATCTGCAGTCCATTAATATCAGTGGCAATGGCTTCTGAGATCAGGCACCCGGGGCCAGAGACATATGGGCCATACCCCTTAACCCCGGGATGCAAGGTAGCATGGGTCCAAGAGACATGGAAGAGAGAGCCATGAAGCATTAAAATGCATGGTGTTGAGAAGAATCAGGAGAGGGATACAAGAGAGGAGATGGGGTCCCGGCACCCATCTGTATCATCAGTGCCTCTTTGAAG
Seq C2 exon
ATGTAATTATGTTTTCAACTCAGGAACTATGGCAAGGAACTTTCCCCAGATCAAATTCTATTAACGCTGAGATACAAGTCATCCATGCACAGCCACTATCATACCCTTTATTCTCACTGAAAGGCAGAACTCAGAACCTGTTATTTTATGTCTGTAATCATGTACTTTGGCATCTTTTGGAGGAAAGGGGCAGGATAACTCACTGGAATGTACAGTATTTTGCTAGTGCATTTCAAGGAATGGAATCTTCTCCAGTATGAAATTACCAGATATAAAATAATGTAATGATGCTGAGGATATAAGCTTTTAGAAGGTAATTTGATGGTATTTCTTTCTCGAATGAAAAGCTGCTGGTTTACCCTCAACCCTATTCATTAGCATTACCATGAGTGAATTTATATCTAATTATTTCCACTTGCCCTGTTCTCTTCACACCAAGGAAGCTCCAGATCCAGTATCTTGTTTGGCCTCAAAACAGAAGCAGCTTCTTTTGTCTCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185591_MULTIEX1-7/7=6-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.338 A=0.327 C2=0.327
Domain overlap (PFAM):
C1:
PF134651=zf-H2C2_2=WD(100=41.2),PF134651=zf-H2C2_2=PU(41.7=14.7)
A:
PF134651=zf-H2C2_2=PD(54.2=12.4)
C2:
PF134651=zf-H2C2_2=PD(54.2=12.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGTGGGAAAGTGTATGGCA
R:
CCTGCCCCTTTCCTCCAAAAG
Band lengths:
344-853
Functional annotations
There are 1 annotated functions for this event
PMID: 11904305
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, protein kinase assay. ELM ID: ELMI001446; ELM sequence: GTATPSA; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains