| General information of RDP00228 | |
|---|---|
| Gene Symbol: | EXTL3 |
| RefSeq ID: | NM_001440 |
| Repeat coordinate: | chr8:28701619-28701640 (+) |
| Repeat size: | 7 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.373; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3) | 605744 | 8p21.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES | NM_001440 | 0.70 | 2 | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
28701617
rs537721750
AGGC
A,AGGCGGCGGCGGCGGC,AGGCGGC,AGGCGGCGGC,AGGCGGCGGCGGC,AGGCGGCGGCGGCGGCGGC
952166.90
8
28701621
.
G
T
5256.74
8
28701628
.
G
T
890.57
8
28701629
.
C
T
895.32
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
8
28701617
.
AGGC
A
.
8
28701620
.
C
CG
.
8
28701634
.
G
C
.
8
28701638
.
C
CG
.