ZSWIM7 (zinc finger SWIM-type containing 7) - Rat Genome Database

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Gene: ZSWIM7 (zinc finger SWIM-type containing 7) Homo sapiens
Analyze
Symbol: ZSWIM7
Name: zinc finger SWIM-type containing 7
RGD ID: 1606167
HGNC Page HGNC:26993
Description: Predicted to enable zinc ion binding activity. Involved in double-strand break repair via homologous recombination and protein stabilization. Part of Shu complex. Implicated in 46 XX gonadal dysgenesis and spermatogenic failure 71.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ODG10; SPGF71; SWIM domain containing Srs2 interacting protein 1; SWIM domain-containing and Srs2-interacting protein 1 homolog; SWIM-domain containing Srs2 interacting protein 1; SWIM-type zinc finger domain-containing protein 7; SWS1; zinc finger SWIM domain-containing protein 7; zinc finger, SWIM-type containing 7
RGD Orthologs
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381715,976,560 - 15,999,704 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1715,976,560 - 15,999,717 (-)EnsemblGRCh38hg38GRCh38
GRCh371715,879,874 - 15,903,018 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361715,820,599 - 15,843,731 (-)NCBINCBI36Build 36hg18NCBI36
Celera1715,782,880 - 15,806,013 (-)NCBICelera
Cytogenetic Map17p12NCBI
HuRef1715,747,186 - 15,770,054 (-)NCBIHuRef
CHM1_11715,888,634 - 15,912,292 (-)NCBICHM1_1
T2T-CHM13v2.01715,878,745 - 15,901,920 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IEA)
Shu complex  (IBA,IDA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16710300   PMID:21873635   PMID:21965664   PMID:25189868   PMID:25659377   PMID:28514442   PMID:28986522   PMID:30686591   PMID:30836272   PMID:31586073  
PMID:31665741   PMID:32296183   PMID:33713115   PMID:33961781   PMID:34048709   PMID:34402903   PMID:35218660   PMID:36202298   PMID:39169038  


Genomics

Comparative Map Data
ZSWIM7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381715,976,560 - 15,999,704 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1715,976,560 - 15,999,717 (-)EnsemblGRCh38hg38GRCh38
GRCh371715,879,874 - 15,903,018 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361715,820,599 - 15,843,731 (-)NCBINCBI36Build 36hg18NCBI36
Celera1715,782,880 - 15,806,013 (-)NCBICelera
Cytogenetic Map17p12NCBI
HuRef1715,747,186 - 15,770,054 (-)NCBIHuRef
CHM1_11715,888,634 - 15,912,292 (-)NCBICHM1_1
T2T-CHM13v2.01715,878,745 - 15,901,920 (-)NCBIT2T-CHM13v2.0
Zswim7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391162,158,050 - 62,172,221 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1162,158,050 - 62,172,201 (-)EnsemblGRCm39 Ensembl
GRCm381162,267,224 - 62,281,395 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1162,267,224 - 62,281,375 (-)EnsemblGRCm38mm10GRCm38
MGSCv371162,080,726 - 62,094,897 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361162,083,410 - 62,097,635 (-)NCBIMGSCv36mm8
MGSCv361162,700,101 - 62,714,326 (-)NCBIMGSCv36mm8
Celera1168,110,278 - 68,111,873 (-)NCBICelera
Cytogenetic Map11B2NCBI
cM Map1137.99NCBI
Zswim7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81047,456,843 - 47,469,084 (-)NCBIGRCr8
mRatBN7.21046,953,311 - 46,969,800 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1046,957,525 - 46,969,671 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1051,661,311 - 51,673,404 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01051,151,861 - 51,163,954 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01046,655,269 - 46,667,362 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01048,587,117 - 48,599,208 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1048,587,119 - 48,599,208 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01048,375,622 - 48,387,713 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41048,438,718 - 48,450,809 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11048,452,340 - 48,464,513 (-)NCBI
Celera1046,203,432 - 46,215,523 (-)NCBICelera
Cytogenetic Map10q23NCBI
Zswim7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554671,364,372 - 1,381,083 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554671,364,044 - 1,381,101 (-)NCBIChiLan1.0ChiLan1.0
ZSWIM7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1539,868,086 - 39,883,693 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl539,868,123 - 39,882,557 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha540,014,407 - 40,030,556 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0539,977,876 - 39,994,037 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl539,977,936 - 39,992,776 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1539,950,116 - 39,966,264 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0539,895,384 - 39,911,528 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0540,086,652 - 40,102,800 (+)NCBIUU_Cfam_GSD_1.0
Zswim7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560259,226,416 - 59,244,847 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936821567,439 - 582,458 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936821567,397 - 582,177 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZSWIM7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1259,418,924 - 59,436,604 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11259,418,905 - 59,434,689 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ZSWIM7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11615,662,268 - 15,681,875 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1615,662,215 - 15,681,561 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660595,278,752 - 5,298,460 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zswim7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248774,404,345 - 4,420,079 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248774,404,174 - 4,427,085 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZSWIM7
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 copy number loss See cases [RCV000050513] Chr17:15776915..18771753 [GRCh38]
Chr17:15680229..18675066 [GRCh37]
Chr17:15620954..18615791 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 copy number loss See cases [RCV000050602] Chr17:15898032..20620700 [GRCh38]
Chr17:15801346..20524013 [GRCh37]
Chr17:15742071..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 copy number gain See cases [RCV000051852] Chr17:15259164..20925299 [GRCh38]
Chr17:15162481..20828612 [GRCh37]
Chr17:15103206..20769204 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 copy number gain See cases [RCV000051853] Chr17:15897832..20620841 [GRCh38]
Chr17:15801146..20524154 [GRCh37]
Chr17:15741871..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 copy number gain See cases [RCV000051849] Chr17:15234685..20620700 [GRCh38]
Chr17:15138002..20524013 [GRCh37]
Chr17:15078727..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3 copy number gain See cases [RCV000052476] Chr17:10892259..17964282 [GRCh38]
Chr17:10795576..17867596 [GRCh37]
Chr17:10736301..17808321 [NCBI36]
Chr17:17p12-11.2
pathogenic
NM_017775.3(TTC19):c.-347C>A single nucleotide variant Mitochondrial complex III deficiency nuclear type 1 [RCV000292135]|not provided [RCV004704978]|not specified [RCV000173455] Chr17:15999502 [GRCh38]
Chr17:15902816 [GRCh37]
Chr17:17p12
benign|likely benign
NM_017775.3(TTC19):c.-169C>G single nucleotide variant Mitochondrial complex III deficiency nuclear type 1 [RCV000394700]|not provided [RCV004704979]|not specified [RCV000173456] Chr17:15999680 [GRCh38]
Chr17:15902994 [GRCh37]
Chr17:17p12
benign|likely benign
GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 copy number loss See cases [RCV000054329] Chr17:15952071..18362819 [GRCh38]
Chr17:15855385..18266133 [GRCh37]
Chr17:15796110..18206858 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3 copy number gain See cases [RCV000137171] Chr17:15210400..18280816 [GRCh38]
Chr17:15113717..18184130 [GRCh37]
Chr17:15054442..18124855 [NCBI36]
Chr17:17p12-11.2
pathogenic|likely pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 copy number loss See cases [RCV000139510] Chr17:15883037..20620700 [GRCh38]
Chr17:15786351..20524013 [GRCh37]
Chr17:15727076..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic|likely pathogenic
GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3 copy number gain See cases [RCV000141771] Chr17:15784832..16860143 [GRCh38]
Chr17:15688146..16763457 [GRCh37]
Chr17:15628871..16704182 [NCBI36]
Chr17:17p12-11.2
uncertain significance
GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 copy number gain See cases [RCV000142169] Chr17:15552362..19014200 [GRCh38]
Chr17:15455676..18917513 [GRCh37]
Chr17:15396401..18858238 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1 copy number loss See cases [RCV000143046] Chr17:15066799..17472457 [GRCh38]
Chr17:14970116..17375771 [GRCh37]
Chr17:14910841..17316496 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 copy number loss See cases [RCV000143177] Chr17:15883037..20658018 [GRCh38]
Chr17:15786351..20561331 [GRCh37]
Chr17:15727076..20501923 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 copy number loss See cases [RCV000143650] Chr17:15850859..20649235 [GRCh38]
Chr17:15754173..20552548 [GRCh37]
Chr17:15694898..20493140 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 copy number loss See cases [RCV000143485] Chr17:15729893..20510251 [GRCh38]
Chr17:15633207..20413564 [GRCh37]
Chr17:15573932..20354156 [NCBI36]
Chr17:17p12-11.2
pathogenic
NM_017775.3(TTC19):c.-340G>C single nucleotide variant Mitochondrial complex III deficiency nuclear type 1 [RCV000351760]|not specified [RCV000125730] Chr17:15999509 [GRCh38]
Chr17:15902823 [GRCh37]
Chr17:17p12
benign|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207129] Chr17:9586165..16325968 [GRCh37]
Chr17:17p13.1-11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 copy number gain See cases [RCV000240104] Chr17:15767020..20261250 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_001042697.2(ZSWIM7):c.74G>A (p.Arg25Gln) single nucleotide variant Mitochondrial complex III deficiency nuclear type 1 [RCV000394704]|not provided [RCV004694306]|not specified [RCV004021692] Chr17:15999521 [GRCh38]
Chr17:15902835 [GRCh37]
Chr17:17p12
uncertain significance
NM_017775.3(TTC19):c.-190C>T single nucleotide variant Mitochondrial complex III deficiency nuclear type 1 [RCV000279385] Chr17:15999659 [GRCh38]
Chr17:15902973 [GRCh37]
Chr17:17p12
uncertain significance
NM_017775.3(TTC19):c.-452G>A single nucleotide variant Mitochondrial complex III deficiency nuclear type 1 [RCV000327365]|not provided [RCV001566509] Chr17:15999397 [GRCh38]
Chr17:15902711 [GRCh37]
Chr17:17p12
likely benign|uncertain significance
NM_017775.3(TTC19):c.-178C>T single nucleotide variant Mitochondrial complex III deficiency nuclear type 1 [RCV000334549]|not specified [RCV000432480] Chr17:15999671 [GRCh38]
Chr17:15902985 [GRCh37]
Chr17:17p12
benign|uncertain significance
NM_017775.3(TTC19):c.-444T>C single nucleotide variant Mitochondrial complex III deficiency nuclear type 1 [RCV000386518] Chr17:15999405 [GRCh38]
Chr17:15902719 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 copy number loss See cases [RCV000446498] Chr17:15745315..20261191 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_017775.3(TTC19):c.-169C>A single nucleotide variant not specified [RCV000437229] Chr17:15999680 [GRCh38]
Chr17:15902994 [GRCh37]
Chr17:17p12
likely benign
GRCh37/hg19 17p12(chr17:15875958-15881277)x1 copy number loss See cases [RCV000448294] Chr17:15875958..15881277 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15688146-16727265)x3 copy number gain See cases [RCV000510417] Chr17:15688146..16727265 [GRCh37]
Chr17:17p12-11.2
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p12(chr17:15722839-15976497)x3 copy number gain not provided [RCV000683896] Chr17:15722839..15976497 [GRCh37]
Chr17:17p12
uncertain significance
NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs) deletion Non-obstructive azoospermia [RCV001544513]|Ovarian dysgenesis 10 [RCV003135958]|Spermatogenic failure 71 [RCV002221273] Chr17:15981114..15981115 [GRCh38]
Chr17:15884428..15884429 [GRCh37]
Chr17:17p12
pathogenic|likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p12(chr17:15902596-15903556)x0 copy number loss not provided [RCV000751942] Chr17:15902596..15903556 [GRCh37]
Chr17:17p12
benign
GRCh37/hg19 17p12(chr17:15902836-15903556)x0 copy number loss not provided [RCV000751943] Chr17:15902836..15903556 [GRCh37]
Chr17:17p12
benign
NC_000017.11:g.15999349T>G single nucleotide variant not provided [RCV001576975] Chr17:15999349 [GRCh38]
Chr17:15902663 [GRCh37]
Chr17:17p12
likely benign
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 copy number gain not provided [RCV000751941] Chr17:15796140..20331131 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_017775.3(TTC19):c.-514T>G single nucleotide variant not provided [RCV000836062] Chr17:15999335 [GRCh38]
Chr17:15902649 [GRCh37]
Chr17:17p12
benign
NM_017775.3(TTC19):c.-621G>C single nucleotide variant not provided [RCV000833090] Chr17:15999228 [GRCh38]
Chr17:15902542 [GRCh37]
Chr17:17p12
likely benign
GRCh37/hg19 17p12-11.2(chr17:15688146-16591261)x3 copy number gain not provided [RCV000847058] Chr17:15688146..16591261 [GRCh37]
Chr17:17p12-11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1 copy number loss not provided [RCV001006874] Chr17:15632431..18726389 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15599193-16756435)x3 copy number gain not provided [RCV000847169] Chr17:15599193..16756435 [GRCh37]
Chr17:17p12-11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15659400-16591180)x1 copy number loss not provided [RCV000848863] Chr17:15659400..16591180 [GRCh37]
Chr17:17p12-11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15722823-16796616)x3 copy number gain not provided [RCV000848922] Chr17:15722823..16796616 [GRCh37]
Chr17:17p12-11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15722839-16763698)x3 copy number gain not provided [RCV001006875] Chr17:15722839..16763698 [GRCh37]
Chr17:17p12-11.2
uncertain significance
NC_000017.11:g.15999042C>T single nucleotide variant not provided [RCV001593858] Chr17:15999042 [GRCh38]
Chr17:15902356 [GRCh37]
Chr17:17p12
likely benign
GRCh37/hg19 17p12-11.2(chr17:15869556-16070609)x3 copy number gain not provided [RCV001006877] Chr17:15869556..16070609 [GRCh37]
Chr17:17p12-11.2
likely benign
GRCh37/hg19 17p12-11.2(chr17:15730101-16591260)x3 copy number gain not provided [RCV001006876] Chr17:15730101..16591260 [GRCh37]
Chr17:17p12-11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1 copy number loss not provided [RCV001259296] Chr17:15810015..18537436 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15688146-16756345)x1 copy number loss not provided [RCV001259297] Chr17:15688146..16756345 [GRCh37]
Chr17:17p12-11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15688146-16769801)x3 copy number gain not provided [RCV001259298] Chr17:15688146..16769801 [GRCh37]
Chr17:17p12-11.2
uncertain significance
NM_017775.3(TTC19):c.-155C>T single nucleotide variant Inborn genetic diseases [RCV004682607] Chr17:15999694 [GRCh38]
Chr17:15903008 [GRCh37]
Chr17:17p12
uncertain significance
NM_017775.3(TTC19):c.-360G>C single nucleotide variant Inborn genetic diseases [RCV004682612] Chr17:15999489 [GRCh38]
Chr17:15902803 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1 copy number loss Hereditary liability to pressure palsies [RCV001825295] Chr17:12524223..16047567 [GRCh37]
Chr17:17p12-11.2
not provided
NM_001042697.2(ZSWIM7):c.173C>G (p.Ser58Ter) single nucleotide variant Ovarian dysgenesis 10 [RCV002221961]   pathogenic
NM_001042697.2(ZSWIM7):c.201+1G>T single nucleotide variant Spermatogenic failure 71 [RCV002221450] Chr17:15987265 [GRCh38]
Chr17:15890579 [GRCh37]
Chr17:17p12
pathogenic
NM_001042697.2(ZSWIM7):c.176C>T (p.Ser59Leu) single nucleotide variant Infertility disorder [RCV002273908] Chr17:15987291 [GRCh38]
Chr17:15890605 [GRCh37]
Chr17:17p12
likely pathogenic
Single allele duplication not specified [RCV002286369] Chr17:11915997..17892664 [GRCh38]
Chr17:17p12-11.2
pathogenic
Single allele complex PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690] Chr17:14876984..22124952 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15869557-16097403)x3 copy number gain not provided [RCV002472771] Chr17:15869557..16097403 [GRCh37]
Chr17:17p12-11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15722840-16653256)x3 copy number gain not provided [RCV002472908] Chr17:15722840..16653256 [GRCh37]
Chr17:17p12-11.2
uncertain significance
NM_017775.3(TTC19):c.-219C>A single nucleotide variant Inborn genetic diseases [RCV002778476] Chr17:15999630 [GRCh38]
Chr17:15902944 [GRCh37]
Chr17:17p12
uncertain significance
NM_001042697.2(ZSWIM7):c.224C>T (p.Thr75Ile) single nucleotide variant not specified [RCV004189975] Chr17:15981122 [GRCh38]
Chr17:15884436 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15754174-16657319)x3 copy number gain not provided [RCV002475858] Chr17:15754174..16657319 [GRCh37]
Chr17:17p12-11.2
uncertain significance
NM_001042697.2(ZSWIM7):c.191G>A (p.Arg64His) single nucleotide variant not specified [RCV004119827] Chr17:15987276 [GRCh38]
Chr17:15890590 [GRCh37]
Chr17:17p12
likely benign
NM_017775.3(TTC19):c.-225G>C single nucleotide variant Inborn genetic diseases [RCV002707300] Chr17:15999624 [GRCh38]
Chr17:15902938 [GRCh37]
Chr17:17p12
uncertain significance
NM_001042697.2(ZSWIM7):c.133G>A (p.Ala45Thr) single nucleotide variant not specified [RCV004138070] Chr17:15987334 [GRCh38]
Chr17:15890648 [GRCh37]
Chr17:17p12
uncertain significance
NM_001042697.2(ZSWIM7):c.245G>C (p.Cys82Ser) single nucleotide variant not specified [RCV004175536] Chr17:15981101 [GRCh38]
Chr17:15884415 [GRCh37]
Chr17:17p12
uncertain significance
NM_001042697.2(ZSWIM7):c.155A>G (p.Gln52Arg) single nucleotide variant not specified [RCV004121071] Chr17:15987312 [GRCh38]
Chr17:15890626 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1 copy number loss not provided [RCV003483314] Chr17:15694772..20582794 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15633208-16567624)x3 copy number gain not provided [RCV003485144] Chr17:15633208..16567624 [GRCh37]
Chr17:17p12-11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1 copy number loss not specified [RCV003987246] Chr17:15759103..20564268 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15872060-16909718)x3 copy number gain not specified [RCV003987222] Chr17:15872060..16909718 [GRCh37]
Chr17:17p12-11.2
uncertain significance
NM_001042697.2(ZSWIM7):c.406A>G (p.Lys136Glu) single nucleotide variant not specified [RCV004490414] Chr17:15978064 [GRCh38]
Chr17:15881378 [GRCh37]
Chr17:17p12
uncertain significance
NM_001042697.2(ZSWIM7):c.56C>T (p.Ala19Val) single nucleotide variant not specified [RCV004490415] Chr17:15999539 [GRCh38]
Chr17:15902853 [GRCh37]
Chr17:17p12
uncertain significance
NM_017775.3(TTC19):c.-204G>A single nucleotide variant Inborn genetic diseases [RCV004479022] Chr17:15999645 [GRCh38]
Chr17:15902959 [GRCh37]
Chr17:17p12
likely benign
NM_017775.3(TTC19):c.-292A>G single nucleotide variant Inborn genetic diseases [RCV004479027] Chr17:15999557 [GRCh38]
Chr17:15902871 [GRCh37]
Chr17:17p12
likely benign
NM_001042697.2(ZSWIM7):c.230C>T (p.Thr77Ile) single nucleotide variant not specified [RCV004603925] Chr17:15981116 [GRCh38]
Chr17:15884430 [GRCh37]
Chr17:17p12
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4100
Count of miRNA genes:913
Interacting mature miRNAs:1067
Transcripts:ENST00000399277, ENST00000399280, ENST00000460252, ENST00000460315, ENST00000472495, ENST00000474716, ENST00000475498, ENST00000476496, ENST00000486655, ENST00000486706, ENST00000490395, ENST00000491631, ENST00000495825, ENST00000497434, ENST00000497719, ENST00000579955, ENST00000584519, ENST00000585208
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407187269GWAS836245_Hblood protein measurement QTL GWAS836245 (human)1e-25blood protein measurementblood protein measurement (CMO:0000028)171598124715981248Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
407241600GWAS890576_Hblood protein measurement QTL GWAS890576 (human)2e-24blood protein measurementblood protein measurement (CMO:0000028)171598124715981248Human
407051133GWAS700109_Hpack-years measurement, systolic blood pressure QTL GWAS700109 (human)0.0000003pack-years measurement, systolic blood pressuresystolic blood pressure (CMO:0000004)171599636115996362Human

Markers in Region
WI-14807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371715,879,921 - 15,880,047UniSTSGRCh37
Build 361715,820,646 - 15,820,772RGDNCBI36
Celera1715,782,927 - 15,783,053RGD
Cytogenetic Map17p12UniSTS
HuRef1715,747,233 - 15,747,359UniSTS
GeneMap99-GB4 RH Map1787.92UniSTS
Whitehead-RH Map17139.7UniSTS
RH121312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371715,897,594 - 15,897,893UniSTSGRCh37
Build 361715,838,319 - 15,838,618RGDNCBI36
Celera1715,800,601 - 15,800,900RGD
Cytogenetic Map17p12UniSTS
HuRef1715,764,642 - 15,764,941UniSTS
TNG Radiation Hybrid Map1729747.0UniSTS
RH69530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371715,891,689 - 15,891,831UniSTSGRCh37
Build 361715,832,414 - 15,832,556RGDNCBI36
Celera1715,794,696 - 15,794,838RGD
Cytogenetic Map17p12UniSTS
HuRef1715,758,744 - 15,758,886UniSTS
GeneMap99-GB4 RH Map1795.89UniSTS
RH35936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371715,881,178 - 15,881,454UniSTSGRCh37
Build 361715,821,903 - 15,822,179RGDNCBI36
Celera1715,784,185 - 15,784,461RGD
Cytogenetic Map17p12UniSTS
HuRef1715,748,490 - 15,748,766UniSTS
GeneMap99-GB4 RH Map1788.47UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
STS-AA011200  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p12UniSTS
GeneMap99-GB4 RH Map1786.76UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001042697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC089386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU075283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ530600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000399277   ⟹   ENSP00000382218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,976,560 - 15,999,704 (-)Ensembl
Ensembl Acc Id: ENST00000399280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,976,560 - 15,999,694 (-)Ensembl
Ensembl Acc Id: ENST00000460252   ⟹   ENSP00000464463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,891 - 15,999,681 (-)Ensembl
Ensembl Acc Id: ENST00000460315   ⟹   ENSP00000462590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,727 - 15,999,688 (-)Ensembl
Ensembl Acc Id: ENST00000472495   ⟹   ENSP00000419138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,727 - 15,999,684 (-)Ensembl
Ensembl Acc Id: ENST00000474716   ⟹   ENSP00000464500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,727 - 15,999,639 (-)Ensembl
Ensembl Acc Id: ENST00000475498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,925 - 15,993,830 (-)Ensembl
Ensembl Acc Id: ENST00000476496   ⟹   ENSP00000462208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,976,560 - 15,999,588 (-)Ensembl
Ensembl Acc Id: ENST00000486655   ⟹   ENSP00000464371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,727 - 15,999,589 (-)Ensembl
Ensembl Acc Id: ENST00000486706   ⟹   ENSP00000463327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,733 - 15,999,669 (-)Ensembl
Ensembl Acc Id: ENST00000490395   ⟹   ENSP00000464605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,976,560 - 15,999,650 (-)Ensembl
Ensembl Acc Id: ENST00000491631   ⟹   ENSP00000462598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,727 - 15,999,717 (-)Ensembl
Ensembl Acc Id: ENST00000495825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,730 - 15,999,683 (-)Ensembl
Ensembl Acc Id: ENST00000497434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,976,569 - 15,980,367 (-)Ensembl
Ensembl Acc Id: ENST00000497719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,012 - 15,999,713 (-)Ensembl
Ensembl Acc Id: ENST00000579955   ⟹   ENSP00000463444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,978,078 - 15,999,684 (-)Ensembl
Ensembl Acc Id: ENST00000584519   ⟹   ENSP00000463592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,683 - 15,999,636 (-)Ensembl
Ensembl Acc Id: ENST00000585208   ⟹   ENSP00000464227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,977,733 - 15,999,634 (-)Ensembl
RefSeq Acc Id: NM_001042697   ⟹   NP_001036162
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381715,976,560 - 15,999,704 (-)NCBI
GRCh371715,879,874 - 15,903,006 (-)RGD
Build 361715,820,599 - 15,843,731 (-)NCBI Archive
Celera1715,782,880 - 15,806,013 (-)RGD
HuRef1715,747,186 - 15,770,054 (-)ENTREZGENE
CHM1_11715,888,634 - 15,912,292 (-)NCBI
T2T-CHM13v2.01715,878,745 - 15,901,920 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001042698   ⟹   NP_001036163
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381715,976,560 - 15,999,704 (-)NCBI
GRCh371715,879,874 - 15,903,006 (-)RGD
Build 361715,820,599 - 15,843,731 (-)NCBI Archive
Celera1715,782,880 - 15,806,013 (-)RGD
HuRef1715,747,186 - 15,770,054 (-)ENTREZGENE
CHM1_11715,888,634 - 15,912,292 (-)NCBI
T2T-CHM13v2.01715,878,745 - 15,901,920 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047435364   ⟹   XP_047291320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381715,976,560 - 15,999,704 (-)NCBI
RefSeq Acc Id: XM_047435365   ⟹   XP_047291321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381715,977,579 - 15,999,704 (-)NCBI
RefSeq Acc Id: XM_047435366   ⟹   XP_047291322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381715,977,579 - 15,999,704 (-)NCBI
RefSeq Acc Id: XM_054315076   ⟹   XP_054171051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01715,878,745 - 15,901,920 (-)NCBI
RefSeq Acc Id: XM_054315077   ⟹   XP_054171052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01715,879,764 - 15,901,882 (-)NCBI
RefSeq Acc Id: XR_007065263
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381715,976,560 - 15,999,704 (-)NCBI
RefSeq Acc Id: XR_007065264
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381715,976,560 - 15,999,704 (-)NCBI
RefSeq Acc Id: XR_008484783
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01715,878,745 - 15,901,920 (-)NCBI
RefSeq Acc Id: XR_008484784
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01715,878,745 - 15,901,920 (-)NCBI
RefSeq Acc Id: NP_001036162   ⟸   NM_001042697
- UniProtKB: Q19AV6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001036163   ⟸   NM_001042698
- UniProtKB: Q19AV6 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000382218   ⟸   ENST00000399277
Ensembl Acc Id: ENSP00000464605   ⟸   ENST00000490395
Ensembl Acc Id: ENSP00000463592   ⟸   ENST00000584519
Ensembl Acc Id: ENSP00000462598   ⟸   ENST00000491631
Ensembl Acc Id: ENSP00000464227   ⟸   ENST00000585208
Ensembl Acc Id: ENSP00000463444   ⟸   ENST00000579955
Ensembl Acc Id: ENSP00000464371   ⟸   ENST00000486655
Ensembl Acc Id: ENSP00000463327   ⟸   ENST00000486706
Ensembl Acc Id: ENSP00000419138   ⟸   ENST00000472495
Ensembl Acc Id: ENSP00000464463   ⟸   ENST00000460252
Ensembl Acc Id: ENSP00000462590   ⟸   ENST00000460315
Ensembl Acc Id: ENSP00000464500   ⟸   ENST00000474716
Ensembl Acc Id: ENSP00000462208   ⟸   ENST00000476496
RefSeq Acc Id: XP_047291320   ⟸   XM_047435364
- Peptide Label: isoform X1
- UniProtKB: Q19AV6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047291322   ⟸   XM_047435366
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047291321   ⟸   XM_047435365
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054171051   ⟸   XM_054315076
- Peptide Label: isoform X1
- UniProtKB: Q19AV6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054171052   ⟸   XM_054315077
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q19AV6-F1-model_v2 AlphaFold Q19AV6 1-140 view protein structure

Promoters
RGD ID:6794105
Promoter ID:HG_KWN:25109
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:ENST00000399277,   ENST00000399280,   OTTHUMT00000131737,   OTTHUMT00000131740,   OTTHUMT00000131741,   OTTHUMT00000131742,   OTTHUMT00000131743,   OTTHUMT00000131744,   OTTHUMT00000131745,   OTTHUMT00000131746,   OTTHUMT00000131748,   OTTHUMT00000131749,   UC002GPG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361715,843,726 - 15,844,527 (-)MPROMDB
RGD ID:7234107
Promoter ID:EPDNEW_H22798
Type:initiation region
Name:ZSWIM7_1
Description:zinc finger SWIM-type containing 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381715,999,704 - 15,999,764EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26993 AgrOrtholog
COSMIC ZSWIM7 COSMIC
Ensembl Genes ENSG00000214941 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000399277 ENTREZGENE
  ENST00000399277.6 UniProtKB/Swiss-Prot
  ENST00000460252.5 UniProtKB/TrEMBL
  ENST00000460315.5 UniProtKB/TrEMBL
  ENST00000472495 ENTREZGENE
  ENST00000472495.5 UniProtKB/Swiss-Prot
  ENST00000474716.5 UniProtKB/TrEMBL
  ENST00000476496.5 UniProtKB/TrEMBL
  ENST00000486655.5 UniProtKB/TrEMBL
  ENST00000486706.6 UniProtKB/TrEMBL
  ENST00000490395 ENTREZGENE
  ENST00000490395.5 UniProtKB/TrEMBL
  ENST00000491631.5 UniProtKB/TrEMBL
  ENST00000579955.1 UniProtKB/TrEMBL
  ENST00000584519.5 UniProtKB/TrEMBL
  ENST00000585208.5 UniProtKB/TrEMBL
GTEx ENSG00000214941 GTEx
HGNC ID HGNC:26993 ENTREZGENE
Human Proteome Map ZSWIM7 Human Proteome Map
InterPro Znf_SWIM UniProtKB/Swiss-Prot
KEGG Report hsa:125150 UniProtKB/Swiss-Prot
NCBI Gene 125150 ENTREZGENE
OMIM 614535 OMIM
PANTHER ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 7 UniProtKB/Swiss-Prot
  ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 7 UniProtKB/Swiss-Prot
  ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 7 UniProtKB/TrEMBL
  ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 7 UniProtKB/TrEMBL
Pfam SWIM UniProtKB/Swiss-Prot
PharmGKB PA162411055 PharmGKB
PROSITE ZF_SWIM UniProtKB/Swiss-Prot
UniProt J3KRY0_HUMAN UniProtKB/TrEMBL
  J3QL97_HUMAN UniProtKB/TrEMBL
  J3QLK2_HUMAN UniProtKB/TrEMBL
  J3QRT4_HUMAN UniProtKB/TrEMBL
  J3QS07_HUMAN UniProtKB/TrEMBL
  J3QS31_HUMAN UniProtKB/TrEMBL
  Q19AV6 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 ZSWIM7  zinc finger SWIM-type containing 7    zinc finger, SWIM-type containing 7  Symbol and/or name change 5135510 APPROVED