HsaINT0056235 @ hg38
Intron Retention
Gene
ENSG00000106991 | ENG
Description
endoglin [Source:HGNC Symbol;Acc:HGNC:3349]
Coordinates
chr9:127815017-127817203:-
Coord C1 exon
chr9:127817149-127817203
Coord A exon
chr9:127816054-127817148
Coord C2 exon
chr9:127815017-127816053
Length
1095 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGC
5' ss Score
8.05
3' ss Seq
ATGGCGTCGGCCCTCTCTAGGTT
3' ss Score
6.82
Exon sequences
Seq C1 exon
GAAGTCCATAGGACTGTCTTCATGCGCTTGAACATCATCAGCCCTGACCTGTCTG
Seq A exon
GTGAGCTCCCTCCAGGTCTCTCGGGTTTGTTCTAGTGGCTGAGGTCACAGTAGGGCACAGCGGGCAGCCCTGAGAAACGGCCTGGGCACATAGCACATGGCAAGGGGGACCCCAGAGAAAGCGGCCCAGAAGGGGCAGGAGGAGGGCTTCCCAGAGCCATAGCAGCCTAGAGCAGGGGCCAGAGCTGCACTTTGCAGATGGAGAGCCCTTGCCCGGGACCGCCCTGTGGGGTGGGAGTCTAGGCCTCTGCCCCCACTCACGGCTCCACTCCATCCCCACAGTTATTGGCTGACCTTGCTGGGAGGATGGAGTCTCCTGGGTGAGACAGAGGCCCTTTGAGGGTGGGTGCTGGCCTTGCCTTCCTTGAGGCCTCTCCCTGCAGGACGCCCCCTCTAGCCTCTCCATCAGTTCCCCCCAGGCCCAGGCCCACACCAGGCAGAAGAGTCCCGACACTGGTGGCAGAGGCAGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCCATCCAGGCCAGGATGGAGCCTCCACTCCCAGCCCAGGACCAAGAAGGCAGGGCTGATAACCCCATGACACAGAATCGGATGTCAGAGGCTCAAGGAAAGACTGCTTGGCCCATAGCCACACAGGAGTCAGGAATGTGGAGGGAATGAGGCTTGGAGCAATCCAAGAGCAGAGCTGCAGGGCACTCGGAGCTGCTCTGGCCCATTCTCTACCTGCTAAAGGCCTCAGAGAGGGGCAGGGTTGACCCAAGGTCATGCAGCAGGTGGGGCAGGCTCTGTACTCCCGAGCCTCAGTTTCCTCACGTTACCCCATCCATCCTCCCTGAAAACGCCATCTCCATCAGCCTTGAGGGGCAGAGGCATGACCCAAAAGGCCTGGCTGGGCCCTCTAGGTGGACAGTCCTAGCAACCATGGCTCAATGCCAGGCCTGGCTGTGATGAGCCCGTTTGCTGCAAGAGGAGACTGAGGTTCAGAGAAGTCGAGGGTCCATGGCTGAGCAGAGCTGGCACCAAAGCCCACATGGGCCAGCACAACAGGGTAGGGGATGGGGCAGGGGCAGAGTGGCAGTGCTGATGGCGTCGGCCCTCTCTAG
Seq C2 exon
GTTGCACAAGCAAAGGCCTCGTCCTGCCCGCCGTGCTGGGCATCACCTTTGGTGCCTTCCTCATCGGGGCCCTGCTCACTGCTGCACTCTGGTACATCTACTCGCACACGCGTGAGTACCCCAGGCCCCCACAGTGAGCATGCCGGGCCCCTCCATCCACCCGGGGGAGCCCAGTGAAGCCTCTGAGGGATTGAGGGGCCCTGGCCAGGACCCTGACCTCCGCCCCTGCCCCCGCTCCCGCTCCCAGGTTCCCCCAGCAAGCGGGAGCCCGTGGTGGCGGTGGCTGCCCCGGCCTCCTCGGAGAGCAGCAGCACCAACCACAGCATCGGGAGCACCCAGAGCACCCCCTGCTCCACCAGCAGCATGGCATAGCCCCGGCCCCCCGCGCTCGCCCAGCAGGAGAGACTGAGCAGCCGCCAGCTGGGAGCACTGGTGTGAACTCACCCTGGGAGCCAGTCCTCCACTCGACCCAGAATGGAGCCTGCTCTCCGCGCCTACCCTTCCCGCCTCCCTCTCAGAGGCCTGCTGCCAGTGCAGCCACTGGCTTGGAACACCTTGGGGTCCCTCCACCCCACAGAACCTTCAACCCAGTGGGTCTGGGATATGGCTGCCCAGGAGACAGACCACTTGCCACGCTGTTGTAAAAACCCAAGTCCCTGTCATTTGAACCTGGATCCAGCACTGGTGAACTGAGCTGGGCAGGAAGGGAGAACTTGAAACAGATTCAGGCCAGCCCAGCCAGGCCAACAGCACCTCCCCGCTGGGAAGAGAAGAGGGCCCAGCCCAGAGCCACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTGGCAGGGGAGACAGGAGCCTAGCGGAGCCCAGCCTGGGAGCCCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCTAGCTCCTGCCACATGGAGCCCCCTCTGCCGGTCGGGCAGCCAGCAGAGGGGGAGTAGCCAAGCTGCTTGTCCTGGGCCTGCCCCTGTGTATTCACCACCAATAAATCAGACCATGAAACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106991:ENST00000344849:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.028
Domain overlap (PFAM):
C1:
PF0010018=Zona_pellucida=PD(2.7=21.1)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATCATCAGCCCTGACCTGT
R:
CGATGCTGTGGTTGGTGCT
Band lengths:
352-1447
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