HsaINT0076600 @ hg38
Intron Retention
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186037934-186039005:+
Coord C1 exon
chr1:186037934-186038035
Coord A exon
chr1:186038036-186038828
Coord C2 exon
chr1:186038829-186039005
Length
793 bp
Sequences
Splice sites
5' ss Seq
CTGGTACAT
5' ss Score
4.22
3' ss Seq
TTCTCCCCTTCTTCTTTCAGTTA
3' ss Score
11.43
Exon sequences
Seq C1 exon
AACCACCTAGTCTGGAAGATGCTGGAAAAATGCTGAATGAGACTGTGTTGGTGAGCAACCCTGTACAGCTGGAGTGTAAGGCAGCTGGAAATCCTGTGCCTG
Seq A exon
GTACATTTACTTTTGAACTCTGTAACTTAATATTTTAAGATTTCTGGGAATAACTGAAATTGGTTTTGAGCATAATATACTAATTACTAGTAAAGAACAGGTTATAGAATACATTTCATGGGTGAAACATTGATAAGAATATTATTAGATAACATTTTTGAATTTTTGTTGCCTTTAACTAACTGCATGAAACAATTTATTTAAACAATGTAGAAATATATGAATACCTTAATCATCTTATTGTCAATATTGTGGCCACAAGGCCCACATGGTGGTTTATATCCATCTATGCTGAAACTTTTTTTTAACTTAAAAGTATCTTAATGAAGCTAGATAAAATTGTCGTTCTAATGAGACTACAACTTTGTTTTGTATATTCCCACCACTGGTAGATTATTCATATGAATCAGTAACAACATAAATCTTTGAGGCCAACAGTGTGGATGGTATTTGGTTTGATTAGACATGTAGCCAAAATTTTATGGATGAGAGGAAACATACAACAAAAAATAGATAGGTTGAAAGTTTGCTATTAAATAATACTGATATATTAGAGATAGTAAAGAATATCTTTCTTCTAAATTCATTTTCAGGACTCACCGACTTGGATCTTGGTGTTTTTCTAAGGGTTACCTTCTCTTAAAAATCAAAGCTAAAGAGATGATTATGTAAACAGATTAAATTCAAATAATAAGTATAAGAATAAAGTAATAGTGACTTAGCTAAGATCCAACTTAGTATATTTAATTTAAAAAATTTTTACATAGATCATCTTCTCCCCTTCTTCTTTCAG
Seq C2 exon
TTATTACATGGTACAAAGATAATCGTCTACTCTCAGGTTCCACCAGCATGACTTTCTTGAACAGAGGACAGATCATTGATATTGAAAGTGCCCAGATCTCAGATGCTGGCATATATAAATGCGTGGCCATCAACTCAGCTGGAGCTACAGAGTTATTTTACAGTCTGCAAGTTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341:ENST00000271588:37
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.057 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(31.0=74.3)
A:
NA
C2:
PF0767911=I-set=PD(67.9=95.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCACCTAGTCTGGAAGATGCT
R:
CATGAACTTGCAGACTGTAAAATAAC
Band lengths:
278-1071
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development