ZNF696 (zinc finger protein 696) - Rat Genome Database

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Gene: ZNF696 (zinc finger protein 696) Homo sapiens
Analyze
Symbol: ZNF696
Name: zinc finger protein 696
RGD ID: 1605338
HGNC Page HGNC:25872
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ14129
RGD Orthologs
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
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
GRCh388143,291,417 - 143,299,952 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,289,676 - 143,299,952 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh378144,373,587 - 144,382,122 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,444,971 - 144,451,539 (+)NCBIBuild 36Build 36hg18NCBI36
Celera8140,682,796 - 140,691,429 (+)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,627,225 - 139,635,796 (+)NCBIHuRef
CHM1_18144,413,768 - 144,422,330 (+)NCBICHM1_1
T2T-CHM13v2.08144,438,806 - 144,447,351 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:11181995   PMID:12477932   PMID:14702039   PMID:19322201   PMID:21873635   PMID:26186194   PMID:26496610   PMID:28514442   PMID:29180619   PMID:32296183   PMID:32814053   PMID:33961781  
PMID:35271311   PMID:36537216   PMID:36897256  


Genomics

Comparative Map Data
ZNF696
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388143,291,417 - 143,299,952 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,289,676 - 143,299,952 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh378144,373,587 - 144,382,122 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,444,971 - 144,451,539 (+)NCBIBuild 36Build 36hg18NCBI36
Celera8140,682,796 - 140,691,429 (+)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,627,225 - 139,635,796 (+)NCBIHuRef
CHM1_18144,413,768 - 144,422,330 (+)NCBICHM1_1
T2T-CHM13v2.08144,438,806 - 144,447,351 (+)NCBIT2T-CHM13v2.0
Znf696
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,017,085 - 2,025,445 (+)EnsemblChiLan1.0 Ensembl
ChiLan1.0NW_0049554542,015,577 - 2,021,102 (+)NCBIChiLan1.0ChiLan1.0
ZNF696
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27160,763,035 - 160,776,018 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18136,279,788 - 136,292,332 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08140,032,518 - 140,047,588 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18143,059,080 - 143,067,034 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,061,971 - 143,065,773 (+)EnsemblPanPan1.1 EnsemblpanPan2panpan1.1
ZNF696
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,047,297 - 37,067,493 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,046,923 - 37,090,922 (+)EnsemblCanFam3.1 EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1336,999,848 - 37,021,747 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0 Ensembl1337,522,087 - 37,562,692 (+)EnsemblROS_Cfam_1.0 Ensembl
Znf696
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mIctTri1.hap171,439,701 - 1,445,856 (-)NCBImIctTri1.hap1
HiC_Itri_2NW_0244053031,324,044 - 1,333,529 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364708,752,601 - 8,756,568 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364708,753,476 - 8,759,552 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF696
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mChlSab1.0.hap18146,967,934 - 146,991,255 (+)NCBImChlSab1.0.hap1
Vero_WHO_p1.0NW_0236660392,390,926 - 2,403,653 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
ChlSab1.18137,506,136 - 137,518,808 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8137,506,198 - 137,518,134 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM

Variants

.
Variants in ZNF696
50 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:8q24.21-24.3 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000050638] Chr8:8q23.3-24.3 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:8p23.3-q24.3 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:8q24.13-24.3 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:8p23.3-q24.3 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000134353] Chr8:8q22.1-24.3 pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss Abnormality of head and neck [RCV000135981] Chr8:8q24.3 pathogenic
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain Intrauterine growth retardation [RCV000137466] Chr8:8q24.3 likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain Downslanted palpebral fissures [RCV000137340] Chr8:8q24.3 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:8q24.13-24.3 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:8p23.3-q24.3 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:8q21.3-24.3 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain Single umbilical artery [RCV000139036] Chr8:8q21.13-24.3 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:8q22.1-24.3 pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:8q24.3 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:8p23.3-q24.3 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain Global developmental delay [RCV000141694] Chr8:8q22.3-24.3 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain Scoliosis [RCV000142021] Chr8:8p21.3-q24.3 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain Ventricular septal defect [RCV000142810] Chr8:8q22.3-24.3 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain Opacification of the corneal stroma [RCV000142858] Chr8:8p23.3-q24.3 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain Feeding difficulties [RCV000142597] Chr8:8q21.13-24.3 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain Delayed speech and language development [RCV000143659] Chr8:8q21.2-24.3 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000137644] Chr8:8q24.22-24.3 pathogenic|conflicting data from submitters
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain see cases [RCV002292707] Chr8:8q13.2-24.3 pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:8q24.3 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:8p12-q24.3 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:8p23.3-q24.3 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000448954] Chr8:8q22.1-24.3 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:8q24.22-24.3 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain Abnormality of the ear [RCV000510234] Chr8:8p23.3-q24.3 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:8q24.22-24.3 likely pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain Delayed gross motor development [RCV000511002] Chr8:8q21.2-24.3 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:8p23.3-q24.3 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:8p23.1-q24.3 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:8q24.12-24.3 pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:8q24.3 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144339053-144379252)x3 copy number gain not provided [RCV000747932] Chr8:144339053..144379252 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144379934-144399886)x1 copy number loss not provided [RCV000747933] Chr8:144379934..144399886 [GRCh37]
Chr8:8q24.3		 benign
NM_030895.3(ZNF696):c.991C>G (p.Arg331Gly) single nucleotide variant not specified [RCV004296271] Chr8:143296666 [GRCh38]
Chr8:144378836 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:8p23.3-q24.3 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:8q24.12-24.3 pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:8q24.3 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:8q24.22-24.3 pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:8q24.3 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:8q24.21-24.3 pathogenic
GRCh37/hg19 8q24.3(chr8:143895666-144568446)x3 copy number gain not provided [RCV002472598] Chr8:8q24.3 uncertain significance
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:8q24.3 uncertain significance
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:8q24.3 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:8q24.12-24.3 pathogenic
NM_030895.3(ZNF696):c.431G>A (p.Arg144Gln) single nucleotide variant not specified [RCV005780869] Chr8:143296106 [GRCh38]
Chr8:144378276 [GRCh37]
Chr8:8q24.3		 likely benign
NM_030895.3(ZNF696):c.638A>T (p.Asp213Val) single nucleotide variant not specified [RCV005780870] Chr8:143296313 [GRCh38]
Chr8:144378483 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.736T>G (p.Phe246Val) single nucleotide variant not specified [RCV005780871] Chr8:143296411 [GRCh38]
Chr8:144378581 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.122A>G (p.Gln41Arg) single nucleotide variant not specified [RCV005528854] Chr8:143295797 [GRCh38]
Chr8:144377967 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:8q24.3 likely pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain see cases [RCV002285066] Chr8:8q21.2-24.3 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:8p23.3-q24.3 pathogenic
GRCh37/hg19 8q24.3(chr8:144111911-144384136)x3 copy number gain not provided [RCV001259509] Chr8:8q24.3 uncertain significance
GRCh37/hg19 8q24.3(chr8:144285728-144534781)x3 copy number gain not provided [RCV001259511] Chr8:8q24.3 uncertain significance
NM_030895.3(ZNF696):c.41G>A (p.Ser14Asn) single nucleotide variant not specified [RCV004293062] Chr8:143293042 [GRCh38]
Chr8:144375212 [GRCh37]
Chr8:8q24.3		 uncertain significance
Single allele duplication Recombinant 8 syndrome [RCV004801486] Chr8:141711312..145138635 [GRCh38]
Chr8:8q24.3		 likely pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:8q24.21-24.3 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:8q13.2-24.3 pathogenic
NC_000008.10:g.(?_144295143)_(145701139_?)del deletion Brown-Vialetto-van Laere syndrome 2 [RCV001939634] Chr8:8q24.3 pathogenic
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication not provided [RCV001922894] Chr8:8q24.3 uncertain significance|no classifications from unflagged records
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain tricuspid regurgitation [RCV002221452] Chr8:8q22.1-24.3 pathogenic
NM_030895.3(ZNF696):c.586C>T (p.Leu196Phe) single nucleotide variant not specified [RCV005797273] Chr8:143296261 [GRCh38]
Chr8:144378431 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.509G>A (p.Arg170Gln) single nucleotide variant not specified [RCV005780866] Chr8:143296184 [GRCh38]
Chr8:144378354 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.911G>A (p.Arg304His) single nucleotide variant not specified [RCV005780872] Chr8:143296586 [GRCh38]
Chr8:144378756 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.468C>A (p.Ser156Arg) single nucleotide variant not specified [RCV004236285] Chr8:143296143 [GRCh38]
Chr8:144378313 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.382G>A (p.Gly128Ser) single nucleotide variant not specified [RCV004236093] Chr8:143296057 [GRCh38]
Chr8:144378227 [GRCh37]
Chr8:8q24.3		 likely benign
NM_030895.3(ZNF696):c.1102C>G (p.Arg368Gly) single nucleotide variant not specified [RCV004138840] Chr8:143296777 [GRCh38]
Chr8:144378947 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.989T>C (p.Phe330Ser) single nucleotide variant not specified [RCV004161601] Chr8:143296664 [GRCh38]
Chr8:144378834 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.1048C>T (p.Arg350Cys) single nucleotide variant not specified [RCV004139557] Chr8:143296723 [GRCh38]
Chr8:144378893 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.532G>A (p.Glu178Lys) single nucleotide variant not specified [RCV004151873] Chr8:143296207 [GRCh38]
Chr8:144378377 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.94C>T (p.Pro32Ser) single nucleotide variant not specified [RCV004100716] Chr8:143295769 [GRCh38]
Chr8:144377939 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.650C>T (p.Ala217Val) single nucleotide variant not specified [RCV004199406] Chr8:143296325 [GRCh38]
Chr8:144378495 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.740T>C (p.Leu247Pro) single nucleotide variant not specified [RCV004169468] Chr8:143296415 [GRCh38]
Chr8:144378585 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.991C>T (p.Arg331Trp) single nucleotide variant not specified [RCV005780873] Chr8:143296666 [GRCh38]
Chr8:144378836 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.38G>A (p.Ser13Asn) single nucleotide variant not specified [RCV005780877] Chr8:143293039 [GRCh38]
Chr8:144375209 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.713C>T (p.Ala238Val) single nucleotide variant not specified [RCV005528850] Chr8:143296388 [GRCh38]
Chr8:144378558 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.544G>A (p.Ala182Thr) single nucleotide variant not specified [RCV005780867] Chr8:143296219 [GRCh38]
Chr8:144378389 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.886C>G (p.Gln296Glu) single nucleotide variant not specified [RCV005780868] Chr8:143296561 [GRCh38]
Chr8:144378731 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.337G>A (p.Gly113Ser) single nucleotide variant not specified [RCV005528851] Chr8:143296012 [GRCh38]
Chr8:144378182 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.479A>G (p.Lys160Arg) single nucleotide variant not specified [RCV004284707] Chr8:143296154 [GRCh38]
Chr8:144378324 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.898C>T (p.Arg300Cys) single nucleotide variant not specified [RCV004277672] Chr8:143296573 [GRCh38]
Chr8:144378743 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.307G>C (p.Glu103Gln) single nucleotide variant not specified [RCV004251192] Chr8:143295982 [GRCh38]
Chr8:144378152 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:142893048-144990940)x1 copy number loss not provided [RCV006437912] Chr8:8q24.3 pathogenic
NM_030895.3(ZNF696):c.443C>T (p.Ser148Leu) single nucleotide variant not specified [RCV006355530] Chr8:143296118 [GRCh38]
Chr8:144378288 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:126446968-146295771)x3 copy number gain not provided [RCV006437914] Chr8:8q24.13-24.3 pathogenic
NM_030895.3(ZNF696):c.594G>T (p.Arg198=) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006005197] Chr8:143296269 [GRCh38]
Chr8:144378439 [GRCh37]
Chr8:8q24.3		 evidence_only
NM_030895.3(ZNF696):c.1078C>A (p.Leu360Met) single nucleotide variant not specified [RCV006355527] Chr8:143296753 [GRCh38]
Chr8:144378923 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.942C>G (p.Ile314Met) single nucleotide variant not specified [RCV006355528] Chr8:143296617 [GRCh38]
Chr8:144378787 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.1013G>A (p.Arg338Gln) single nucleotide variant not specified [RCV006355531] Chr8:143296688 [GRCh38]
Chr8:144378858 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.223G>T (p.Glu75Ter) single nucleotide variant Lung cancer [RCV006005196] Chr8:143295898 [GRCh38]
Chr8:144378068 [GRCh37]
Chr8:8q24.3		 evidence_only
NM_030895.3(ZNF696):c.760C>T (p.Arg254Trp) single nucleotide variant not specified [RCV006355525] Chr8:143296435 [GRCh38]
Chr8:144378605 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.65-284A>G single nucleotide variant Ovarian serous cystadenocarcinoma [RCV006005194] Chr8:143295456 [GRCh38]
Chr8:144377626 [GRCh37]
Chr8:8q24.3		 evidence_only
GRCh37/hg19 8q24.3(chr8:143689344-144448860)x3 copy number gain not provided [RCV003484754] Chr8:8q24.3 uncertain significance
NM_030895.3(ZNF696):c.558C>T (p.Cys186=) single nucleotide variant not provided [RCV003440714] Chr8:143296233 [GRCh38]
Chr8:144378403 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3 copy number gain not provided [RCV003484757] Chr8:8q24.3 uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:8q24.3 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:8p23.3-q24.3 pathogenic
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:8q24.3 uncertain significance
NM_030895.3(ZNF696):c.959C>G (p.Pro320Arg) single nucleotide variant not specified [RCV004490114] Chr8:143296634 [GRCh38]
Chr8:144378804 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:8q23.3-24.3 pathogenic
NM_030895.3(ZNF696):c.455C>T (p.Pro152Leu) single nucleotide variant not specified [RCV004601750] Chr8:143296130 [GRCh38]
Chr8:144378300 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.1114G>T (p.Gly372Cys) single nucleotide variant not specified [RCV004601751] Chr8:143296789 [GRCh38]
Chr8:144378959 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.965A>T (p.Gln322Leu) single nucleotide variant not specified [RCV004601752] Chr8:143296640 [GRCh38]
Chr8:144378810 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.776A>T (p.His259Leu) single nucleotide variant not specified [RCV004614710] Chr8:143296451 [GRCh38]
Chr8:144378621 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.773C>G (p.Thr258Ser) single nucleotide variant not specified [RCV006355526] Chr8:143296448 [GRCh38]
Chr8:144378618 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.2-24.3(chr8:111432348-146295771)x3 copy number gain not provided [RCV004819306] Chr8:8q23.2-24.3 pathogenic
NM_030895.3(ZNF696):c.1019A>G (p.Gln340Arg) single nucleotide variant not specified [RCV004889245] Chr8:143296694 [GRCh38]
Chr8:144378864 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.818C>T (p.Ala273Val) single nucleotide variant not specified [RCV004889250] Chr8:143296493 [GRCh38]
Chr8:144378663 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.637G>A (p.Asp213Asn) single nucleotide variant not specified [RCV004889253] Chr8:143296312 [GRCh38]
Chr8:144378482 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.515A>G (p.Gln172Arg) single nucleotide variant not specified [RCV004889244] Chr8:143296190 [GRCh38]
Chr8:144378360 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.1085T>C (p.Phe362Ser) single nucleotide variant not specified [RCV004889246] Chr8:143296760 [GRCh38]
Chr8:144378930 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.231G>C (p.Gln77His) single nucleotide variant not specified [RCV004889247] Chr8:143295906 [GRCh38]
Chr8:144378076 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.733C>T (p.Arg245Cys) single nucleotide variant not specified [RCV004889249] Chr8:143296408 [GRCh38]
Chr8:144378578 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.836A>G (p.Asn279Ser) single nucleotide variant not specified [RCV004889251] Chr8:143296511 [GRCh38]
Chr8:144378681 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.863C>T (p.Thr288Met) single nucleotide variant not specified [RCV004889252] Chr8:143296538 [GRCh38]
Chr8:144378708 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.127G>C (p.Ala43Pro) single nucleotide variant not specified [RCV004889248] Chr8:143295802 [GRCh38]
Chr8:144377972 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.973C>T (p.His325Tyr) single nucleotide variant not specified [RCV005300802] Chr8:143296648 [GRCh38]
Chr8:144378818 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.848A>C (p.His283Pro) single nucleotide variant not specified [RCV005300803] Chr8:143296523 [GRCh38]
Chr8:144378693 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.1048C>G (p.Arg350Gly) single nucleotide variant not specified [RCV005300804] Chr8:143296723 [GRCh38]
Chr8:144378893 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.8C>T (p.Pro3Leu) single nucleotide variant not specified [RCV005300805] Chr8:143293009 [GRCh38]
Chr8:144375179 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.430C>T (p.Arg144Trp) single nucleotide variant not specified [RCV005300806] Chr8:143296105 [GRCh38]
Chr8:144378275 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.634G>A (p.Ala212Thr) single nucleotide variant not specified [RCV005300807] Chr8:143296309 [GRCh38]
Chr8:144378479 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.124G>A (p.Ala42Thr) single nucleotide variant not specified [RCV005300809] Chr8:143295799 [GRCh38]
Chr8:144377969 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.1012C>T (p.Arg338Trp) single nucleotide variant not specified [RCV005300810] Chr8:143296687 [GRCh38]
Chr8:144378857 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.274A>G (p.Thr92Ala) single nucleotide variant not specified [RCV006355524] Chr8:143295949 [GRCh38]
Chr8:144378119 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.872G>A (p.Arg291Gln) single nucleotide variant not specified [RCV005528853] Chr8:143296547 [GRCh38]
Chr8:144378717 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain Sleep disturbance [RCV000512401] Chr8:8q23.3-24.3 pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:8q24.23-24.3 pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:8q24.13-24.3 pathogenic
GRCh37/hg19 8q24.3(chr8:144320365-144624272)x3 copy number gain not provided [RCV001006154] Chr8:8q24.3 uncertain significance
NM_030895.3(ZNF696):c.278C>G (p.Ser93Cys) single nucleotide variant not specified [RCV005780874] Chr8:143295953 [GRCh38]
Chr8:144378123 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.49A>G (p.Met17Val) single nucleotide variant not specified [RCV005797272] Chr8:143293050 [GRCh38]
Chr8:144375220 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.890A>G (p.Asp297Gly) single nucleotide variant not specified [RCV005780875] Chr8:143296565 [GRCh38]
Chr8:144378735 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.899G>A (p.Arg300His) single nucleotide variant not specified [RCV005780876] Chr8:143296574 [GRCh38]
Chr8:144378744 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.1046T>G (p.Phe349Cys) single nucleotide variant not specified [RCV004253135] Chr8:143296721 [GRCh38]
Chr8:144378891 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.614G>A (p.Gly205Asp) single nucleotide variant not specified [RCV004265973] Chr8:143296289 [GRCh38]
Chr8:144378459 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.887A>G (p.Gln296Arg) single nucleotide variant not specified [RCV004250529] Chr8:143296562 [GRCh38]
Chr8:144378732 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.65-192G>A single nucleotide variant Gastric cancer [RCV006005195] Chr8:143295548 [GRCh38]
Chr8:144377718 [GRCh37]
Chr8:8q24.3		 evidence_only
NM_030895.3(ZNF696):c.160G>A (p.Ala54Thr) single nucleotide variant not specified [RCV004490108] Chr8:143295835 [GRCh38]
Chr8:144378005 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.289G>A (p.Gly97Arg) single nucleotide variant not specified [RCV004490109] Chr8:143295964 [GRCh38]
Chr8:144378134 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.405G>C (p.Lys135Asn) single nucleotide variant not specified [RCV004490110] Chr8:143296080 [GRCh38]
Chr8:144378250 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.589C>T (p.Leu197Phe) single nucleotide variant not specified [RCV004490112] Chr8:143296264 [GRCh38]
Chr8:144378434 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.919T>C (p.Phe307Leu) single nucleotide variant not specified [RCV004490113] Chr8:143296594 [GRCh38]
Chr8:144378764 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.559G>A (p.Gly187Ser) single nucleotide variant not specified [RCV004490111] Chr8:143296234 [GRCh38]
Chr8:144378404 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.1063G>A (p.Gly355Ser) single nucleotide variant not specified [RCV004490107] Chr8:143296738 [GRCh38]
Chr8:144378908 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.364G>C (p.Gly122Arg) single nucleotide variant not specified [RCV004889254] Chr8:143296039 [GRCh38]
Chr8:144378209 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_030895.3(ZNF696):c.958C>A (p.Pro320Thr) single nucleotide variant not specified [RCV005528855] Chr8:143296633 [GRCh38]
Chr8:144378803 [GRCh37]
Chr8:8q24.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2305
Count of miRNA genes:929
Interacting mature miRNAs:1136
Transcripts:ENST00000330143, ENST00000518432, ENST00000518575, ENST00000520333, ENST00000521537, ENST00000523891
Prediction methods:Microtar, Miranda, 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
628401766GWAS2309995_Herythrocyte volume QTL GWAS2309995 (human)7e-15erythrocyte volume8143293689143293690Human
645240626GWAS3133907_Hbody height QTL GWAS3133907 (human)2e-09body height8143293645143293646Human
597983987GWAS1703286_Herythrocyte volume QTL GWAS1703286 (human)1e-15erythrocyte volume8143293689143293690Human
598017442GWAS1736741_Herythrocyte volume QTL GWAS1736741 (human)2e-12erythrocyte volume8143293689143293690Human
628928215GWAS2836444_Hbody height QTL GWAS2836444 (human)4e-13body height8143293689143293690Human
628874071GWAS2782300_Hmethionine measurement QTL GWAS2782300 (human)3e-08blood L-methionine amount (VT:0010981)blood amino acid measurement (CMO:0003730)8143293645143293646Human

Markers in Region
RH65208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,380,670 - 144,380,811UniSTSGRCh37
Build 368144,452,045 - 144,452,186RGDNCBI36
Celera8140,689,977 - 140,690,118RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,634,344 - 139,634,485UniSTS
GeneMap99-GB4 RH Map8548.76UniSTS
RH80170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,379,080 - 144,379,316UniSTSGRCh37
Build 368144,450,455 - 144,450,691RGDNCBI36
Celera8140,688,387 - 140,688,623RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,632,754 - 139,632,990UniSTS
GeneMap99-GB4 RH Map8547.18UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS


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 1946 465 2270 7301 6467 53 3734 1 852 1744 1617 174 1

Sequence


Ensembl Acc Id: ENST00000330143   ⟹   ENSP00000328515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,417 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000518432   ⟹   ENSP00000428856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,417 - 143,295,996 (+)Ensembl
Ensembl Acc Id: ENST00000518575   ⟹   ENSP00000427857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,290,910 - 143,296,287 (+)Ensembl
Ensembl Acc Id: ENST00000520333   ⟹   ENSP00000430952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000521537   ⟹   ENSP00000429859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,293,312 (+)Ensembl
Ensembl Acc Id: ENST00000523891   ⟹   ENSP00000428163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,289,676 - 143,295,964 (+)Ensembl
Ensembl Acc Id: ENST00000909971   ⟹   ENSP00000580030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,290,600 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000909972   ⟹   ENSP00000580031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,373 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000909973   ⟹   ENSP00000580032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000909974   ⟹   ENSP00000580033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,432 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000924642   ⟹   ENSP00000594701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000971662   ⟹   ENSP00000641721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,426 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000971663   ⟹   ENSP00000641722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,407 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000971664   ⟹   ENSP00000641723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,373 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000971665   ⟹   ENSP00000641724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00000988259   ⟹   ENSP00000658076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00001038716   ⟹   ENSP00000708533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00001038717   ⟹   ENSP00000708534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,412 - 143,299,485 (+)Ensembl
Ensembl Acc Id: ENST00001038718   ⟹   ENSP00000708535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00001065339   ⟹   ENSP00000735145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00001120306   ⟹   ENSP00000790111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,481 (+)Ensembl
Ensembl Acc Id: ENST00001125284   ⟹   ENSP00000795089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,952 (+)Ensembl
Ensembl Acc Id: ENST00001135684   ⟹   ENSP00000807156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,291,381 - 143,299,952 (+)Ensembl
RefSeq Acc Id: NM_030895   ⟹   NP_112157
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,291,417 - 143,299,952 (+)NCBI
GRCh378144,371,651 - 144,382,122 (+)NCBI
Build 368144,444,971 - 144,451,539 (+)NCBI Archive
Celera8140,682,796 - 140,691,429 (+)RGD
HuRef8139,627,225 - 139,635,796 (+)ENTREZGENE
CHM1_18144,413,768 - 144,422,330 (+)NCBI
T2T-CHM13v2.08144,438,806 - 144,447,351 (+)NCBI
Sequence:
RefSeq Acc Id: NP_112157   ⟸   NM_030895
- UniProtKB: A0AVE2 (UniProtKB/Swiss-Prot),   Q9H7X3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000427857   ⟸   ENST00000518575
Ensembl Acc Id: ENSP00000428856   ⟸   ENST00000518432
Ensembl Acc Id: ENSP00000430952   ⟸   ENST00000520333
Ensembl Acc Id: ENSP00000429859   ⟸   ENST00000521537
Ensembl Acc Id: ENSP00000428163   ⟸   ENST00000523891
Ensembl Acc Id: ENSP00000328515   ⟸   ENST00000330143
Ensembl Acc Id: ENSP00000641724   ⟸   ENST00000971665
Ensembl Acc Id: ENSP00000594701   ⟸   ENST00000924642
Ensembl Acc Id: ENSP00000580033   ⟸   ENST00000909974
Ensembl Acc Id: ENSP00000580032   ⟸   ENST00000909973
Ensembl Acc Id: ENSP00000580030   ⟸   ENST00000909971
Ensembl Acc Id: ENSP00000641722   ⟸   ENST00000971663
Ensembl Acc Id: ENSP00000580031   ⟸   ENST00000909972
Ensembl Acc Id: ENSP00000641723   ⟸   ENST00000971664
Ensembl Acc Id: ENSP00000641721   ⟸   ENST00000971662
Ensembl Acc Id: ENSP00000807156   ⟸   ENST00001135684
Ensembl Acc Id: ENSP00000708533   ⟸   ENST00001038716
Ensembl Acc Id: ENSP00000790111   ⟸   ENST00001120306
Ensembl Acc Id: ENSP00000658076   ⟸   ENST00000988259
Ensembl Acc Id: ENSP00000708534   ⟸   ENST00001038717
Ensembl Acc Id: ENSP00000795089   ⟸   ENST00001125284
Ensembl Acc Id: ENSP00000735145   ⟸   ENST00001065339
Ensembl Acc Id: ENSP00000708535   ⟸   ENST00001038718
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H7X3-F1-model_v2 AlphaFold Q9H7X3 1-374 view protein structure

Promoters
RGD ID:7214343
Promoter ID:EPDNEW_H12916
Type:initiation region
Name:ZNF696_1
Description:zinc finger protein 696
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
GRCh388143,291,417 - 143,291,477EPDNEW
RGD ID:6807188
Promoter ID:HG_KWN:62255
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_030895
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,444,649 - 144,445,149 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25872 AgrOrtholog
COSMIC ZNF696 COSMIC
Ensembl Genes ENSG00000185730 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000330143 ENTREZGENE
  ENST00000330143.8 UniProtKB/Swiss-Prot
  ENST00000909971.1 UniProtKB/Swiss-Prot
  ENST00000909972.1 UniProtKB/Swiss-Prot
  ENST00000909973.1 UniProtKB/Swiss-Prot
  ENST00000909974.1 UniProtKB/Swiss-Prot
  ENST00000924642.1 UniProtKB/Swiss-Prot
  ENST00000971662.1 UniProtKB/Swiss-Prot
  ENST00000971663.1 UniProtKB/Swiss-Prot
  ENST00000971664.1 UniProtKB/Swiss-Prot
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000185730 GTEx
HGNC ID HGNC:25872 ENTREZGENE
Human Proteome Map ZNF696 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:79943 UniProtKB/Swiss-Prot
NCBI Gene 79943 ENTREZGENE
PANTHER KRUEPPEL-LIKE TRANSCRIPTION FACTOR UniProtKB/Swiss-Prot
  SI:DKEY-210J14.3 UniProtKB/Swiss-Prot
Pfam zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA142670494 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt A0ACI8VMR6_HUMAN UniProtKB/TrEMBL
  A0AVE2 ENTREZGENE
  E5RFI7_HUMAN UniProtKB/TrEMBL
  E5RG39_HUMAN UniProtKB/TrEMBL
  E5RH76_HUMAN UniProtKB/TrEMBL
  E5RH99_HUMAN UniProtKB/TrEMBL
  E5RJV3_HUMAN UniProtKB/TrEMBL
  Q9H7X3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0AVE2 UniProtKB/Swiss-Prot