| General information of RDP00003 | |
|---|---|
| Gene Symbol: | PHOX2B |
| RefSeq ID: | NM_003924 |
| Repeat coordinate: | chr4:41745776-41745794 (-) |
| Repeat size: | 6 |
| Repeat region: | 3' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.184; 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 |
| {Neuroblastoma, susceptibility to, 2}, 613013 (3) | 603851 | 4p13 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Neural crest tumor | NM_003924 | 0.31 | 1 | 0 | ORPHANET |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
41745774
348806
TCGCCGCCGC
T
.
4
41745788
348807
G
T
.
4
41745789
348808
C
T
.
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
41745774
.
TCGC
T
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
41745774
rs774951337
TCGCCGCCGC
TCGCCGC,T,TCGCCGCCGCCGC,TCGC,TCGCCGCCGCCGCCGCCGC,TCGCCGCCGCCGCCGC
271005.83
4
41745779
rs749346904
G
T
57360.25
4
41745781
.
C
T
54344.37
4
41745784
rs768798757
C
T
1521.36
4
41745785
.
G
A,T
1103.75
4
41745787
rs779171868
C
A,T
4468.01
4
41745788
rs770841700
G
T
23494.20
4
41745789
rs776498322
C
T
23775.63
4
41745790
rs759556353
C
G,T
1337.10
4
41745793
rs769726959
C
T
1896.01
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
41745774
rs774951337
TCGCCGCCGC
TCGCCGCCGCCGC,TCGCCGC,TCGC,T,TCGCCGCCGCCGCCGC
23542.20
4
41745779
rs749346904
G
T
14895.10
4
41745784
rs768798757
C
T
921.47
4
41745788
rs770841700
G
T
541.47
4
41745789
rs776498322
C
T
541.47
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
4
41745774
rs763380864
TCGC
T
.
4
41745774
rs771616235
TCGCCGCCGC
TCGCCGC,TCGCCGCCGCCGC,TCGCCGCCGCCGCCGC,TCGCCGCCGCCGCCGCCGC,T
.
4
41745779
rs749346904
G
T
.
4
41745784
rs768798757
C
T
.
4
41745787
rs779171868
C
A,T
.
4
41745787
.
C
CG
.
4
41745788
rs770841700
G
T
.
4
41745789
rs776498322
C
T
.
4
41745790
rs759556353
C
G
.
4
41745793
rs769726959
C
T
.
4
41745794
.
G
A
.
4
41745794
.
G
GC
.