| General information of RDP00392 | |
|---|---|
| Gene Symbol: | IGSF3 |
| RefSeq ID: | NM_001007237 |
| Repeat coordinate: | chr1:116579647-116579668 (-) |
| Repeat size: | 7 |
| Repeat region: | CDS |
| Repeat unit: | GAC |
| Repeat conservation: | PhastCons_score: 0.032; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | DDDDDDD |
| 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 |
| Lacrimal duct defect, 149700 (3) | 603491 | 1p13.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Lacrimal Puncta, Absence of | NM_001007237 | 0.30 | 1 | 0 | ORPHANET |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
116579647
.
GGTCGTC
GGTCGTCGTC,G
100
1
116579663
.
G
GTCC
100
| Mapping repeat track to ESP: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
116579651
rs114783166
G
A
.
1
116579653
rs139167564
C
T
.
1
116579654
rs145987433
G
A
.
1
116579659
rs200837113
C
T
.
1
116579664
rs151042895
T
A
.
1
116579666
rs647711
G
C
.
1
116579666
~rs72034493
GTCC
GTCCTCCTCC,G,GTCCTCC
.
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
116579647
rs750408015
GGTCGTCGTCGTC
GGTCGTCGTC,GGTCGTCGTCGTCGTC,GGTCGTCGTCGTCGTCGTC,GGTCGTC,GGTC,G
707919.56
1
116579648
rs755193067
G
GTCA
542514.81
1
116579650
rs767375748
C
CGTT,T
564876.16
1
116579651
rs114783166
G
A,GTCA
341360.29
1
116579652
rs796708331
TCG
T
301987.21
1
116579653
rs531457319
C
T
318867.28
1
116579654
rs145987433
G
A,GTCA
71247.27
1
116579655
rs749813708
TC
T
57074.46
1
116579656
rs565068608
C
CGTT,T
468624.54
1
116579657
rs774851287
G
GTCA,A
122858.73
1
116579659
rs760018949
CGT
C,TGT,CGTTGT
53439.17
1
116579660
rs754121541
GTCGTCGTCCTCC
GTCCTCGTCGTCCTCC,GTCATCGTCGTCCTCC,ATCGTCGTCCTCC,G
913725.78
1
116579661
rs758346038
T
C
7759.98
1
116579662
rs540876761
CG
C,TG
7838.60
1
116579663
rs114915440
GTCGTCC
GTCCTCGTCC,CTCGTCC,G,GTCCTCCTCGTCC,ATCGTCC
54227405.18
1
116579664
rs151042895
T
A
1157210.62
1
116579665
rs529963341
C
T
60725.32
1
116579666
rs781349066
GTCCTCC
CTCCTCC,GTCCTCCTCC,GTCCTCCTCCTCC,GTCC,G
118668416.29
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
116579647
rs750408015
GGTCGTCGTCGTC
GGTCGTCGTC,GGTCGTC,GGTCGTCGTCGTCGTC,GGTCGTCGTCGTCGTCGTC,G
81668.81
1
116579648
rs755193067
G
GTCA
61201.78
1
116579650
rs767375748
C
T
61169.74
1
116579651
rs114783166
G
A
44954.74
1
116579653
rs531457319
C
T
43083.93
1
116579654
rs145987433
G
A,GTCA
6960.28
1
116579656
rs565068608
C
T,CGTT
73640.34
1
116579657
rs774851287
G
GTCA
4031.02
1
116579658
rs796490752
T
TCGA
3941.91
1
116579659
rs760018949
CGT
C,TGT
7756.70
1
116579660
rs754121541
G
GTCA,GTCC
22907.36
1
116579662
rs540876761
CG
C
3673.69
1
116579663
rs114915440
G
GTCC,C,GTCCTCC,GTCCTCCTCCTCC
5882780.72
1
116579664
rs151042895
T
A
45973.70
1
116579666
rs781349066
GTCCTCC
GTCCTCCTCCTCC,CTCCTCC,GTCC,GTCCTCCTCC,G
8222783.57
1
116579668
.
C
CCTA
11091.02
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
116579647
.
GGTC
G
.
1
116579647
rs756842433
GGTC
G
.
1
116579647
rs562520690
GGTCGTC
G,GGTC,GGTCGTCGTC
.
1
116579647
rs758065295
GGTCGTCGTC
G
.
1
116579647
rs779840753
GGTCGTCGTCGTC
G,GGTC,GGTCGTC,GGTCGTCGTC,GGTCGTCGTCGTCGTC,GGTCGTCGTCGTCGTCGTC
.
1
116579648
rs755193067
G
GTCA
.
1
116579648
rs55719879
GTC
G
.
1
116579650
rs767375748
C
T
.
1
116579650
rs781437178
C
CGTT
.
1
116579651
rs114783166
G
A,GTCA
.
1
116579651
rs748172660
G
GTCA
.
1
116579652
rs796708331
TCG
T
.
1
116579653
rs139167564
C
T
.
1
116579653
rs531457319
C
CCG,CGTC
.
1
116579654
rs145987433
G
A
.
1
116579654
rs773523036
G
GTCA
.
1
116579656
rs565068608
C
T
.
1
116579656
rs748093509
C
CGTT
.
1
116579657
rs754648154
G
A,C
.
1
116579657
rs774851287
G
GTCA
.
1
116579658
rs796490752
TCG
T
.
1
116579659
rs200837113
C
T
.
1
116579659
.
CGT
C,CGTTGT,TGT
.
1
116579659
.
CGTCGTCGTCC
CGTCGACGTCC,CGTCGTCCTCCTCC,TGTCGTCCTCCTCC
.
1
116579659
rs760018949
C
CCG,CGTT
.
1
116579659
rs796625909
CGT
C
.
1
116579660
.
G
C
.
1
116579660
.
GTCGTCGTCCTCC
ATCGTCGTCCTCC,G,GTCATCGTCGTCCTCC,GTCCTCGTCGTCCTCC
.
1
116579660
rs754121541
G
GGT,GTCA,GTCC
.
1
116579660
rs750273543
GTCGTCGTCCTCC
G
.
1
116579662
rs540876761
C
T
.
1
116579663
rs114915440
G
A,ATCC,C,GTCC,GTCCTCC
.
1
116579663
.
GTCG
GTCCTCC
.
1
116579663
rs576658823
G
GTCCTCC,GTCC
.
1
116579664
rs151042895
T
A
.
1
116579665
rs529963341
C
T
.
1
116579665
.
CG
CC,CCTCC,CCTCCTCC
.
1
116579665
.
CGTCC
CCTCCTCC
.
1
116579665
.
C
CGTT
.
1
116579666
rs647711
G
C,CTCC,GTCCTCC
.
1
116579666
.
GTCCTCC
CTCCTCC,G,GTCCTCCTCC
.
1
116579666
rs747068638
G
GTCCTCC,GTCC
.
1
116579666
rs777893363
GTCC
G
.
1
116579666
rs749394198
GTCCTCC
G
.