HsaINT0076578 @ hg38
Intron Retention
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:185980978-185982389:+
Coord C1 exon
chr1:185980978-185981073
Coord A exon
chr1:185981074-185982261
Coord C2 exon
chr1:185982262-185982389
Length
1188 bp
Sequences
Splice sites
5' ss Seq
TTGGTAAGA
5' ss Score
8.85
3' ss Seq
TGTGCTCTCTCTTGATTTAGTTG
3' ss Score
9.64
Exon sequences
Seq C1 exon
ACTTATGGGCAAGTGATAAAGGAACCTATATTTGTGAAGCTGAAAACCAGTTTGGAAAGATCCAGTCAGAGACAACAGTAACAGTGACCGGACTTG
Seq A exon
GTAAGATCAATTGAATGTCTACATACCATGGTCTTCAAAGTCATCAGACTTCTTTTACTATGTCATCTCTTGCCTGTGCCACTTAAAAAAAAACAAAAGATAAATGACTAATTACTAGACCAGCCTTCCCTTCCCTGCCACACTTCATATTTCTTAGAATGTTAGTCCTGGAAATAACCTTAGAGATTATCTGCTCCAAAATGAAGGGCAATTTAAATAAATTATTTCAAATCTAAATATGAATACACACATGCACACACACACACACACACACATATTAGAGTTGTGGTCTTTTCTGATTCCTTTTTTACATTTGTTATTTTAGTCAACATGGAATTATTTTTGTGTATGATAGGTAAAAATATAATATCATTTATTTCCAAGTAAGACATTTGATGCAATATCTATTATTGAATATTCTCTTCCCACTGACTAAAATACCCATTTGATCATGTAGTAAGTTTATGTCCCCATGTCTATTCCTTAGAATTCTATTTCTGAAATAGTACTACGTTGCTTAAATTATTATAGCATTTAATATGATTTTTATATCTGTCAGTACATGTTTCTCATTAATACCCTTTTACACAGTTTTTAAAATATGTCTTCATTAGTCTACATACACGTTTTCCAAGTAAAATCTCTTAGGGATTTTACTTTATGTTAAATTTATTCATTAATTTTTAGAGAAGGGCATATTTACAATACTCCTTTACCATTCCATCTAAGAGAGTCAACCTCATATTATTTGCTTGAGATATTACAACAGCATCCTTATTGATCCCATTTCTTCCAGTGTACTTACAGTTTTCAGATTAATATTTCCCCAGAAAATGATCCTGATGATTCCACTTTTCCACTTATAAATGCTTTCAGTTACTCTCCATTTGTCTACTGAATACATTGCAAATATCTTGGCTTGACATTTCAGGCCTTCCATGCCATAAGCATTCTTTTTTACCTTCTTTACTACTGCAGTAATGTATTACCTGTCCTTTTGCATTCCCCCTACTTAGAAGGAGACTTTAATTTTTACTTTCAAAATCATACCCATTTTCATGTAAATATTTTGTTTCTGAAAACTCAAACTTTTATAGCATAACTAACAGTCTTTGGGGCCTGTGAAGTGGCTTACCTTTCTTTTGGGTGAAATAGAGTTGAAAGTGCCTGTGCTCTCTCTTGATTTAG
Seq C2 exon
TTGCTCCACTTATTGGAATCAGCCCTTCAGTGGCCAATGTTATTGAAGGACAGCAGCTTACTTTGCCCTGTACTCTGTTAGCTGGAAATCCCATTCCAGAACGTCGGTGGATTAAGAATTCAGCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341:ENST00000271588:17
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0767911=I-set=PD(30.4=84.8)
A:
NA
C2:
PF0767911=I-set=PU(45.5=93.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTATGGGCAAGTGATAAAGGAACC
R:
TAGCTGAATTCTTAATCCACCGACG
Band lengths:
222-1410
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