HsaINT0052375 @ hg19
Intron Retention
Gene
ENSG00000177103 | DSCAML1
Description
Down syndrome cell adhesion molecule like 1 [Source:HGNC Symbol;Acc:14656]
Coordinates
chr11:117387182-117389477:-
Coord C1 exon
chr11:117389181-117389477
Coord A exon
chr11:117387455-117389180
Coord C2 exon
chr11:117387182-117387454
Length
1726 bp
Sequences
Splice sites
5' ss Seq
GAGGTGCCT
5' ss Score
4.01
3' ss Seq
CTCTTCTGACTCCTGCCCAGGCC
3' ss Score
6.42
Exon sequences
Seq C1 exon
ATGGCACGCCCCGCATCGTCTCGTCCTTCAGCGAGAAGGTGGTCAACCCCGGGGAGCAGTTCTCACTGATGTGTGCGGCCAAGGGCGCCCCGCCCCCCACGGTCACCTGGGCCCTCGACGATGAGCCCATCGTGCGGGATGGCAGCCACCGCACCAACCAGTACACCATGTCGGACGGCACCACCATCAGCCACATGAACGTCACAGGCCCCCAGATCCGCGACGGGGGCGTGTACCGGTGCACAGCGCGGAACTTGGTGGGCAGTGCTGAATATCAGGCGCGAATAAACGTAAGAG
Seq A exon
GTGCCTGTCTACATTTAAATATCAGAATAGGTTTTTGAGTTCCTTTGCCATCTCTGTGGTTACCATTATTCTTGTGCTGATTAGTACTTATTATTAATCGTCATTTTGATTTTAGTAGAGGTCTCTCTCCCCTCTCTCGTCCCCTTTTCCTGCCCTCCTCAAGCGCCATCATCCATTCTTGTGTGCGTGTGTGTGTCTGGTACAGTTCACCCTCATTCACCTCCCCATTCCCCCTCCTCCTTCCTCCTGTCCAGAAATCCAGCCAGCCCAGCCCCTTCTCTTACCCTCTAGCCCATTCCTCCCCATCAAATCTCTCTGGGGCCCAAGTATGCTAAACACCTGCTGGTATCTGCCAGCCCCACCAGGGCCTTGTAAGGGCAAGACAGTGCAGGGGCTGGGGACCAGGCTTGGTCTTTAACATGGTTGCCCACCCAAGCTGTGCTCCCTCTGTCCTCCCACTGAGCCAGCCCCCAAAATGCTCCAGGAGGTATAAGCAACCAGGAGCCAGGGCACCATCTTCTCCCGCAAGGCTCACACCATCAAGAGTAAGAGGCTGAGGCTGGGTGGGGGTGTCCCAAGGAAGGCAGCCTCCAAGAGTGGGGAAAGGAGTCCTCAAGGGCATCATCCCCACATCTCAGTTCTTCAAGTCACTGTGGTGAGAACACAGTCTCCTCTGAAGCTCTTTGTAGCCCGATGGGGTCTGACTGGTCTTCATCTGACCCTACTGCTGACCCCTGACCCAAGGGCAGAGGAGCAGGGGGACAGCAGGAAGGGAAGGGGCACTGATCCAGGGGCACCCCTGGTTGCCGTGGGGGTAGGAAAAGGAGCAAAGGTGGAGTTTCATGTTGAATTTGCCTGTGCCAAGCCTTGGACTCCTGACAGAAGTGTGGGTTTCCCATCTGGCCACCCTCCTGCCCTCTCCTCTGTATTGGAAGGGGGACAGAGATGCAGGGCCCTGGAAGATTTCCCAGTCGGGCCCTGGAAGATTTCCCAGTTGGGCCCCTCATGTTCTGGATGGGGACCTGAGGCCCAGAGAGTACCTTGTACCCTGTGGAGCACTGTCTTGCTTGGTAGCCTCTGAACTCCCTTTCCATCCCCTAGATTGCCATCTGCCCAGCAAGCCTAGCCCAGGACACTCTCTCTCCCCAGCCAGCACTATCAGAGCCCCTTTCACAGCTCCTTCCCAGGGGCCTACAATACACATTTACTTGTTGAACGAAAGTCATCAGCTCACCTGGCGAAGACCTTCCTGTTGTTTTTAAGTAATTAACTTAAATTCCTTTTGGGTACGAGATCAAAATAAGCAAGTAGAATGGAAACAACAAAATCTCTACCTTTCCACTTTAATCCCAAAATCTTAATCTCCCCATAAATGAGGACTTGCCCTCCCAAATCCCAGTCACTTCTTGGTGGGGCTGCAGTTTGGTCCTATCCCTGTCCCACGAGGGGAATGGCTCTTGGCCAAGGCATGTATATACTGCGTCCGTTTGCAACTCTTTGAAGCTAGTAACAGTGAGTCCTGGAGAGACTGTGGGCACCCCCCAATTCCAGCCCCTGTCTGTAGCTTTGTAAAAAGGCATCCCTGTGCCCCCACCAAATGTCCGCCCCCGAAAGTCTCAGGGGCCGAGTGCCTGAGAAGAGCACCGCAGGGTGGTGCCTGGCTGTCCCTGGCTGACAGCAGCACATGCCCTTCTCCTCCTCCTCCTCTCTTCTGACTCCTGCCCAG
Seq C2 exon
GCCCACCCAGCATCCGGGCTATGCGGAACATCACAGCAGTCGCCGGGCGGGACACCCTTATCAACTGCAGGGTCATCGGCTATCCCTACTACTCCATCAAGTGGTACAAGGATGCCCTGCTGCTGCCAGACAACCACCGCCAGGTGGTGTTTGAGAATGGGACCCTCAAGCTGACTGACGTGCAGAAGGGCATGGATGAGGGGGAGTACCTGTGCAGTGTCCTCATCCAGCCCCAGCTCTCCATCAGCCAGAGCGTTCACGTAGCCGTCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177103-DSCAML1:NM_020693:7
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.240 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0767911=I-set=WD(100=95.0)
A:
NA
C2:
PF0767911=I-set=WD(100=96.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCACCATCAGCCACATGAAC
R:
TGAGGACACTGCACAGGTACT
Band lengths:
343-2069
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)