Special

HsaINT0038192 @ hg38

Intron Retention

Gene
ENSG00000084636 | COL16A1
Description
collagen type XVI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2193]
Coordinates
chr1:31668802-31670646:-
Coord C1 exon
chr1:31670602-31670646
Coord A exon
chr1:31668856-31670601
Coord C2 exon
chr1:31668802-31668855
Length
1746 bp
Sequences
Splice sites
5' ss Seq
CCTGTAAGA
5' ss Score
4.07
3' ss Seq
TCATGATTTTTCTCTCCAAGGGC
3' ss Score
6.97
Exon sequences
Seq C1 exon
GGCCCCCCAGGTTTTCCTGGTGCTGTTGGCTCCCCCGGATTGCCT
Seq A exon
GTAAGAACCTAGCGCTGCTCGACCTCCCCTCCCCCCCGTCAGCCAGGTCTCTGTGGCTTTTGCTTGTCTCCCTCCTGTCGTGCCTTCACCTCCGTCCTCCGTGTTTGTTGTCCCCCTTCAGGCACGGTAGCTAACGACACGGGTTCTCTGAGGTCCCGGCAGCTTGGACATCCTCCCAGTCTCTGACTCCTTTCCGTTTTCTCCTCTCCCTCCTCTCCTGCGTTCTTTCTCTCCTCTTCTCTCTCTTACCCCGTTCTGTCTTCCTTCTCCATTTCTCGCACCATCTTGCAGCACTCCCCCAAGTCCTCCTGAGCTCGTGAACCTTCCTCTTAAGCTGGTGCCTCTAGGGGGCCCCTCCATTCCTGCCTTCTCGCTCTGCCTCCTGCTTCTCACCACCTTCGGCGTTGCCTGAAGATTTGCTGAAAGTAGTTCTTGGGGCCCTGCCAGGCACCTGGCTCAGAGCCCAGCAGAGATGCCAAAGCTTTAGGGCTTCACATTGCAGGCTGGCACAGGTTTGCTGCCCTGCTGCTTGGCAGGGCTGTCCAGAGGCACCCAGGGATTTAAAGGCAGCCCTTCCTGCGCCTTTTCCGTCGTCCTAGAGGAAACTCTCAGCTGCCTCCTCTTCGCTTCCTCTTCCTTGGCTCCAGTCCCAGTCTGCTCCAAGGCGGGGCATGTGATATCAGCCAGTTGGGTTTCTGGGTGTCGTGCGGCCCTGCCCCTCTGTGCCCGGCACCTTGGCCGGCTCCTTCTGCCAGGTGTCGTTAATTGCTCTGCCTTCGTCATCGTCACAGGTGTGTTTACATCACCCCCAGCCTCATTGTTGCTCCCTCCTGGGTCACGGAAACTAACCTCCTGTTTGTCAGGTTTTGTGTTCCTGGGGCCTGGCTCCTCTCCTCCCAGGCCTGGTGATGGAGGCTCAGGGAGCAGGGCCCCTCCTCGTCACAGTTCCATCTGTCCCCACGTCCTCATCTGTGGCCGGGCCTTGTCTGTTTCTGCTTGCTTGGGTGAAGGGGCCATCTGTCCGTCTAGCCATCTGTCTTATGTCATGGAAAGGTTTGGGCGTCATCTCTTGAGGGGATGAGGGAGAAGGGGGCAGGAAAGGTGCCCTTAATGGCATGGCACCTGCAAAGGCTGGGGTAAGGAATTAGGGGTGGGGGCTGTAGCTCTCGTGGAAAGTGACATGCCCTCTCACCCTACAAAGTGACAGGGACTGCTCTGGAGGCAGCCTTCCTGTGTCTCTCCCCTGCCTCCCTCCAAGAAAGTGATTTTTGCTTGGGGTGGGGGACTTGGACAGGTAAGTGTTGGGTATCTGATGATATGATACACTTTGGTGGCAGCATCCATCTGGGGTACCTCTCCTGACAGTTGCCCCTCAGAATAAGCACACATCTGATCCATCACCTTCCTAAAGGTGTACGCCAGTCAGTTACCATGGCAGGGCATACCAGCGACGGGCACCTGAGAGATACCCTCCCAGAGTCACCTCTGCTGGAGGGCATATCTCTATAGTTATCTATCTTGAAGGGTATCCTCCTGAGAGGCACCCATATGTGGGGTTCACACCTCCACCAGTCATCCTGCTGGAGCACACCCATTACGGGTCACCTTCTAGGGACACTACGAGAGCCACTATGGCCTCCATATTTGCCTGGAGTGGGAACAGAAGGCAGTGGGGCAGGGGGAAGGAGTCAGGGGCTGGGTGGGGACCGCCGGCTCCTGCAGTTTCTCATGATTTTTCTCTCCAAG
Seq C2 exon
GGCCTTCAAGGAGAGCGAGGTCTCACGGGCCTGACTGGAGACAAGGGGGAGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000084636:ENST00000373672:49
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(20.3=100),PF0139113=Collagen=PU(15.7=73.3)
A:
NA
C2:
PF0139113=Collagen=PD(13.0=50.0),PF0139113=Collagen=FE(24.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
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