HsaINT0027168 @ hg19
Intron Retention
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin-associated protein 1 [Source:HGNC Symbol;Acc:19946]
Coordinates
chr9:138754313-138758382:-
Coord C1 exon
chr9:138758302-138758382
Coord A exon
chr9:138754455-138758301
Coord C2 exon
chr9:138754313-138754454
Length
3847 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
3' ss Seq
TTTCCTTTTATCAACTACAGGTC
3' ss Score
10.51
Exon sequences
Seq C1 exon
GTAAATCTTAAAATGAGAGAGATAACAGAGAAAGAAGTTAAATTAAAACAACAGTTATTGGAAAGTCCAGCTCATCAAAAG
Seq A exon
GTAAAGGGTAAATTTAATTTTTCTGGAATGCACTAAGTTAATGTTGGTCCCAATTTTAAAGAATTCTGTTAGTTCCCACTATTTGCTTATTCTCTATTTTTACTCACCAAAGAAGCAGCTAGTCTCTTGGATTCACCTGGTGGGCTGATTCTCCACACCTCAGTGAGATGTGACCACGGCAGCCTGCCCCGCCTCTCCTGGGAAGGGGTGTTTTGTATTGCACTTTATGGTGCGTGAGGGTATTTGGGGGAATTGGGAAGCTTGAGTGAGGGACGTAGGGCCCACCTGGGTGCTAGCTTCCACAAGTCAACAAACAAGGGGGAAATTGCCTGTTGCTAAAGATGCCCTCGAAAAGTCCTTAAGTGGCTCATGAGGTACAGCGTAGCTGGTGGTGTACCTGTGTGCCTGTGCCATGATTCTGCTGGATGAACCCTACGTGCCTACTGAAGTAGCACGATGGCTGGGCTGCACCTTCCAGCCATTAGCCTTTTTCTTCCTCTGACGTTATTTTCTCTTTTGCAAGCACATGTGTGACTGAATTCACTCAGTTCAGTGCACACAAGATGCAGCCCGACCATCTATAAGGTCTCGCCTTTGAAGGGCAGTGTGCTGCCTTCCCCTGTTCCTTCTTCCCCCTCCAGTGGCACCAGCCCCTGGCCATGCATTTGTTAGCTGGGTGGGTGGGTGAGTCAGGCCGCCTGGTATGCCTCCCTCATCTGGATCTTAAGCATTGAGCTTCCTCCCTGTTCCTCAGATGGTCATGTTTAACACATGGGTACAGACTAAGCACTAGACCCTTCCCGCGTCAGAGCTGACTTCTTGCCTTTTGGTACCCAGCCCATACCAAGTTTCCGAAGTTTTCTTTGCTACTGCAAAGAATAGTGTTGTGGAGGTGACTCGTGATCTTCCACTTTAATCATCTGCTAATACAACATGACTATGGCCACGTACACTTAGAAGACTTTGCTTACCAGAGGCTCTCCCGCCTCTGCCGTGTAAACGCCGTGGGGAAGTGTGTGTTACCTCGTCCACACGTGGACCTGCTCTGCTGATGCTCCTCTCCTGCCTTCCTTCTCTCGCTTCCTGAGCAGTCTCCCTCCAAGTGGTATTGGAAGTTAGTGCCTGTAAGTGAACCCCAAGCCGCCAGCTGCCATCTACAGAGCCATCCTGTCGCGATCACTTGCTTCCATTAAAAACTGCTCGCACCCAAAACTGTTTTTTTGTTGTTGTTGTTTAAATGTCCCACCTTGGAGTTATTTATATAGTACAAGAATTGGCCTGATTCTGAGCCGAATAGGCCTTGTAATATGGCACTTTGGAACTCTTAAGTTACATTTCGCCCAGTTTCCTAGTTACTTCTTTAAGTGATCAACGTGCACGTAATGAGAGGGCATTTTTGTGATAGATACAGAGGGAATGAGAAGTGGTCTAGTTGCCCAAGTTACTCTGTATATTTTGTTCTTTCTGATGTTACCTTGCCTGACTGTGGTATGTAATGTGACATCTGTTAGGAGCCATCAGCTGGGTGGTCCAGGTATGCGGGTGATGCACCTGGTGGACTAGGGCTGGAGGGCTGCAGAGAGGGGCTCTCACCAGCATGTCAGATTCCTCTGTTCTCCTCCTCGGGTGTTGCAGCCATTCCTGCTGCCTCGGCCTGCATGGAGTGGGGAAGGGGCGTTTCCTTATTCCCAGGCAAGGGTCTGAGTTAGGTCAGCCTGGCCACAGGCTTTCTGGAGTTAAGTGTGAATTTTCACATAAAAAGAAAGGTGAAAACAGCATTTGGTTTTCCAACCCTAGTTGTGCTCCACCTGGTGGCCCATTCTGGAAGCGGAGCCAGTTTGTTACCAGGCCCCTGGGGAGAGAGTACTTGGTGCCAGTGGTGCCTTTCTCGGGAACTTTTGGATGGAGATCTTGCAGAGGGCTTTATGCATACTCCATTAACTGCCTGTGTCCTTCAGTGTCATTATTGGGCCCCTATTTTCCTTTGAAGTCCATCCTCGAGGCGATAGCAGCGGGAGTAAGCTGGGATACAGGGCTCCTTTGAGCAGCGGTAGATTCTGCTGCAGAGCTCACAGATCATTTTGCCTCTCTTGAAATATATTAATAAGAAGAAAGAGGAAAGCATTCTAAATCAATATAGATCTTTTAACTTTTTGAATCCTGAAGACTGAAGAGCTAAATATCAAAGCACTTACGTGATTTAGTCAAGGGCTCACAGACTTCGTCTGTCCTGCAGGAAGTGAGGTCACATGAGAGTTTTATAAAAACAGAAACATGTTACCAAGGGTGGTGGGTCCCTTAATGCTTTTTTATTAGATAGTTCATAACCCTAACTTTCCGACCCCAGTGTTCAGTAAATAGGTCAGTGAGGAGAAGTGTGGAAAGGCCTGGGAAAGACGGACAGATTTAGAGGTCTAACCTCAACACTGTACAGCCTAGAGGTTCACAGCACCTGATTTGCAAGGCAGCTATACAAGTTCCTGGACTCTTGTAGTTCCGGAGTGTTTCACCTGACCTTAAGCCCACCCCATCCATCTTTAATCAAGAAACCATGTGCTTTCCCGCATGCCTGTGTTCCCCCCTCACGTGTCTGCTGTCTGTGTGGAAGCCTGGCCTGGCGCATGCTGTGGTGCACTGCATGCTGGAACCCGTGGAGTTTGCACGCGTGGTACAGTATGAGGCGGGTCACGTTTTGTAGTGTGTGCCGTGGGCTCCCGAGAAACAAGTTAAAGTGTGTGCTGAAATAGATTTTATTGACATAAAATAAGCCTTATTGCTAAATTTAAGAGAATGTGTTACAAATGTTTTTTGCTAAACATCAGTATTGATTATTCTACATGATGTACTTATTGACATAACAACCTGAAATTCTTGATTTTAGACAATTTCTCCTCAAGTTGATTCAGCTGCATGACTCTCAGAAATCAGTCATTTTTTATTGTAGATTGCTGGTTTTCTTCCTCTAGTTTGTATCGTGTATTTTCCTCCTGTGGAGAAAATGTGGTTGGCAAGAAATGCCATATTTTAAAGCTGTATCGTGGCTGTTAATGCAGAAAACACCAGTGTACTGCAGGCTGTTTGGCAGTGGGGCTGGGGCTGAGTGTCCTGCCCTCAGTGGCCTGTGTCTGTGCTCTTGTTCGCTGACATGCAGATACAGGGGCAGATCTGAGGGTTTGATGGAGTGCAGAAGGCCACACGTGTGGCTTTCTGTAAATGCAGAAACATGGAATCCTTGAGCAGACACTTGTCTTCTGGAGCACCTTGCATGGATTTCGCCTCCTGATGCTTCATTGCCGTTAATAGAGTGGTGGTGGTTGTGTTATGAGAAATTTTGTCTAACCTGGCTTCTGAAATTTCTCAAACTAAATATTCATGCTGTTTTGTGTTTTTCTTAATGACTGAGGCTAGTGATATTACTCAGAAAAGTAACAGTAACTTGGGTCTTCTGAGCGTCAGGATGTTCACCATTTAACTTGTTTCTCGTTAGTGTCTAGTACGTCGGCTTTCGGTAGTGTAGGTGTGTGTTCTGTGTCCTTTCCCGTGTGTGCCTGCACTAGTGGCAGCCTCTGCTTCCAGGTCAGTTTAGAGTAGACTGGCTCTGGTATTGCTAGCAAGTAGTTGCTGTTACCCAGTGTAGCCATGAAGCCCAGCTCCTTGGATCTTGACATATATGTTCCAGGCAAAGTACGTAATCCAGACGTTTCTAACTCTTTCTAGATTATTGCAATTGTTCTCCATGTTGTCTGTTAGGCGTTATGTTAATTCTCGATCTAACAGTGTGCCTGTAACATATATGGTAGTGAAGAGACATCACATGCAGAGACCGTTTTCCTTTTATCAACTACAG
Seq C2 exon
GTCCGCTATCGACGAGAGCACCTTTCTGCTAGGCAGTCACCCTACTTCCCGTTGTTGGAGGATTTGATGAGAGACGGCAGTGATGGTGCTGCTCTCTTAGCTGTGATTCACTATTATTGCCCAGAGCAGATGAAACTGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559-CAMSAP1:NM_015447:4
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.049 A=NA C2=0.007
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(17.8=100)
A:
NA
C2:
PF119713=CAMSAP_CH=PU(48.8=85.4)
Main Inclusion Isoform:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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
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)