SYNE4 (spectrin repeat containing nuclear envelope family member 4) - Rat Genome Database

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Gene: SYNE4 (spectrin repeat containing nuclear envelope family member 4) Homo sapiens
Analyze
Symbol: SYNE4
Name: spectrin repeat containing nuclear envelope family member 4
RGD ID: 1602427
HGNC Page HGNC:26703
Description: Predicted to be involved in establishment of epithelial cell apical/basal polarity. Predicted to be located in nuclear outer membrane. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Implicated in autosomal recessive nonsyndromic deafness 76.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C19orf46; deafness, autosomal recessive 76; DFNB76; FLJ36445; KASH domain-containing protein 4; KASH4; Nesp4; nesprin-4; nuclear envelope spectrin repeat protein 4; spectrin repeat containing, nuclear envelope family member 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh381936,003,307 - 36,008,813 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1936,003,307 - 36,008,813 (-)EnsemblGRCh38hg38GRCh38
GRCh371936,494,209 - 36,499,715 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361941,185,842 - 41,191,512 (-)NCBINCBI36Build 36hg18NCBI36
Celera1933,208,182 - 33,213,852 (-)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,999,551 - 33,005,221 (-)NCBIHuRef
CHM1_11936,495,363 - 36,501,021 (-)NCBICHM1_1
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:19164528   PMID:20301607   PMID:21516116   PMID:21873635   PMID:21900206   PMID:23348741   PMID:25416956   PMID:25910212   PMID:26186194  
PMID:26871637   PMID:28514442   PMID:31515488   PMID:32296183   PMID:33058875   PMID:33393904   PMID:33961781   PMID:35156780   PMID:35748872  


Genomics

Comparative Map Data
SYNE4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381936,003,307 - 36,008,813 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1936,003,307 - 36,008,813 (-)EnsemblGRCh38hg38GRCh38
GRCh371936,494,209 - 36,499,715 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361941,185,842 - 41,191,512 (-)NCBINCBI36Build 36hg18NCBI36
Celera1933,208,182 - 33,213,852 (-)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,999,551 - 33,005,221 (-)NCBIHuRef
CHM1_11936,495,363 - 36,501,021 (-)NCBICHM1_1
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBIT2T-CHM13v2.0
Syne4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39730,014,268 - 30,018,471 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl730,014,232 - 30,018,471 (+)EnsemblGRCm39 Ensembl
GRCm38730,314,816 - 30,319,045 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl730,314,807 - 30,319,046 (+)EnsemblGRCm38mm10GRCm38
MGSCv37731,099,835 - 31,104,064 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36730,023,589 - 30,027,802 (+)NCBIMGSCv36mm8
Celera724,910,949 - 24,915,178 (+)NCBICelera
Cytogenetic Map7B1NCBI
cM Map717.39NCBI
Syne4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8194,696,866 - 94,701,230 (+)NCBIGRCr8
mRatBN7.2185,569,409 - 85,573,775 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl185,569,545 - 85,573,760 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx190,985,692 - 90,989,914 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0199,453,869 - 99,458,094 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0192,743,953 - 92,748,175 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0188,772,729 - 88,777,044 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl190,951,771 - 90,957,082 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl188,772,904 - 88,776,999 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0192,089,513 - 92,094,265 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4185,261,148 - 85,265,361 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera179,943,400 - 79,947,613 (+)NCBICelera
Cytogenetic Map1q21NCBI
Syne4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554682,580,743 - 2,584,967 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554682,580,743 - 2,584,967 (+)NCBIChiLan1.0ChiLan1.0
SYNE4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22042,004,219 - 42,009,995 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11943,980,063 - 43,993,549 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01932,921,175 - 32,927,266 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11941,671,236 - 41,675,697 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1941,671,236 - 41,675,697 (-)Ensemblpanpan1.1panPan2
SYNE4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11116,676,365 - 116,686,911 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1116,670,841 - 116,680,515 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1116,082,051 - 116,086,286 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01117,279,504 - 117,283,709 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1117,279,808 - 117,283,665 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11116,843,545 - 116,847,745 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01116,467,111 - 116,471,289 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01117,522,317 - 117,526,499 (+)NCBIUU_Cfam_GSD_1.0
Syne4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934911,270,511 - 11,274,218 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493692240,684 - 44,312 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493692240,640 - 44,414 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SYNE4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl645,380,218 - 45,384,671 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1645,377,914 - 45,384,869 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2640,782,889 - 40,787,555 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SYNE4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1630,914,081 - 30,920,154 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl630,914,119 - 30,919,752 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660738,709,024 - 8,715,061 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in SYNE4
250 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001039876.3(SYNE4):c.243T>C (p.Ser81=) single nucleotide variant SYNE4-related condition [RCV003908030]|not provided [RCV000729444] Chr19:36008253 [GRCh38]
Chr19:36499155 [GRCh37]
Chr19:19q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001039876.3(SYNE4):c.695T>C (p.Val232Ala) single nucleotide variant not provided [RCV000729447] Chr19:36006595 [GRCh38]
Chr19:36497497 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.277G>A (p.Glu93Lys) single nucleotide variant not provided [RCV000729448] Chr19:36008219 [GRCh38]
Chr19:36499121 [GRCh37]
Chr19:19q13.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_001039876.3(SYNE4):c.112G>A (p.Gly38Arg) single nucleotide variant not provided [RCV000727882] Chr19:36008570 [GRCh38]
Chr19:36499472 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.257C>T (p.Pro86Leu) single nucleotide variant SYNE4-related condition [RCV003953008]|not provided [RCV000888258]|not specified [RCV000602606] Chr19:36008239 [GRCh38]
Chr19:36499141 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs) deletion Autosomal recessive nonsyndromic hearing loss 76 [RCV000074459]|not provided [RCV003556157] Chr19:36008267..36008268 [GRCh38]
Chr19:36499169..36499170 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.96dup (p.Val33fs) duplication not provided [RCV003852853] Chr19:36008585..36008586 [GRCh38]
Chr19:36499487..36499488 [GRCh37]
Chr19:19q13.12		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13		 pathogenic
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr) single nucleotide variant not provided [RCV001853266]|not specified [RCV000203088] Chr19:36008576 [GRCh38]
Chr19:36499478 [GRCh37]
Chr19:19q13.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val) single nucleotide variant not provided [RCV003231406]|not specified [RCV000219537] Chr19:36003425 [GRCh38]
Chr19:36494327 [GRCh37]
Chr19:19q13.12		 likely benign|uncertain significance
NM_001039876.3(SYNE4):c.616C>T (p.Leu206=) single nucleotide variant not provided [RCV000916823]|not specified [RCV000217209] Chr19:36006752 [GRCh38]
Chr19:36497654 [GRCh37]
Chr19:19q13.12		 likely benign|uncertain significance
NM_001039876.3(SYNE4):c.834G>C (p.Gln278His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 76 [RCV001815252]|not provided [RCV002054936]|not specified [RCV000221990] Chr19:36006456 [GRCh38]
Chr19:36497358 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 76 [RCV001801527]|Nonsyndromic genetic hearing loss [RCV002271467]|SYNE4-related condition [RCV003417771]|not provided [RCV000760529]|not specified [RCV000217413] Chr19:36006591 [GRCh38]
Chr19:36497493 [GRCh37]
Chr19:19q13.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001039876.3(SYNE4):c.799C>T (p.Arg267Trp) single nucleotide variant not provided [RCV000973602]|not specified [RCV000222320] Chr19:36006491 [GRCh38]
Chr19:36497393 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.*5T>C single nucleotide variant SYNE4-related condition [RCV003955251]|not provided [RCV001596990]|not specified [RCV000213515] Chr19:36003332 [GRCh38]
Chr19:36494234 [GRCh37]
Chr19:19q13.12		 benign|likely benign
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) single nucleotide variant Rare genetic deafness [RCV000213729]|not provided [RCV000760544] Chr19:36006809 [GRCh38]
Chr19:36497711 [GRCh37]
Chr19:19q13.12		 pathogenic|likely pathogenic
NM_001039876.3(SYNE4):c.96C>T (p.Thr32=) single nucleotide variant SYNE4-related condition [RCV003907801]|not provided [RCV000955036]|not specified [RCV000215448] Chr19:36008586 [GRCh38]
Chr19:36499488 [GRCh37]
Chr19:19q13.12		 benign|likely benign
NM_001039876.3(SYNE4):c.543G>A (p.Arg181=) single nucleotide variant not provided [RCV000969321]|not specified [RCV000217921] Chr19:36006825 [GRCh38]
Chr19:36497727 [GRCh37]
Chr19:19q13.12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001039876.3(SYNE4):c.1025A>G (p.Asn342Ser) single nucleotide variant not provided [RCV000841789]|not specified [RCV000220494] Chr19:36003619 [GRCh38]
Chr19:36494521 [GRCh37]
Chr19:19q13.12		 likely benign|uncertain significance
NM_001039876.3(SYNE4):c.317A>C (p.Gln106Pro) single nucleotide variant not provided [RCV001530866] Chr19:36007231 [GRCh38]
Chr19:36498133 [GRCh37]
Chr19:19q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001039876.3(SYNE4):c.225G>A (p.Pro75=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 76 [RCV001815219]|not provided [RCV002054934]|not specified [RCV000218277] Chr19:36008271 [GRCh38]
Chr19:36499173 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.1(SYNE4):c.(?_1)_(1215_?)del deletion Rare genetic deafness [RCV000220767] Chr19:36003337..36008681 [GRCh38]
Chr19:36494239..36499583 [GRCh37]
Chr19:19q13.12		 likely pathogenic
NM_001039876.3(SYNE4):c.363G>A (p.Gln121=) single nucleotide variant not provided [RCV000964063]|not specified [RCV000221280] Chr19:36007185 [GRCh38]
Chr19:36498087 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=) single nucleotide variant SYNE4-related condition [RCV003929880]|not provided [RCV000953388]|not specified [RCV000214727] Chr19:36006485 [GRCh38]
Chr19:36497387 [GRCh37]
Chr19:19q13.12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001039876.3(SYNE4):c.819T>C (p.Cys273=) single nucleotide variant not provided [RCV000993228]|not specified [RCV000219001] Chr19:36006471 [GRCh38]
Chr19:36497373 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.523G>C (p.Ala175Pro) single nucleotide variant not provided [RCV002054935]|not specified [RCV000214921] Chr19:36006845 [GRCh38]
Chr19:36497747 [GRCh37]
Chr19:19q13.12		 benign|likely benign
NM_001039876.3(SYNE4):c.411G>A (p.Met137Ile) single nucleotide variant not specified [RCV000223147] Chr19:36007137 [GRCh38]
Chr19:36498039 [GRCh37]
Chr19:19q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) single nucleotide variant SYNE4-related condition [RCV003977638]|not provided [RCV000224318]|not specified [RCV001195350] Chr19:36003450 [GRCh38]
Chr19:36494352 [GRCh37]
Chr19:19q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3 copy number gain See cases [RCV000240597] Chr19:36475577..38399402 [GRCh37]
Chr19:19q13.12-13.13		 uncertain significance
NM_001039876.3(SYNE4):c.69T>C (p.Pro23=) single nucleotide variant not provided [RCV001567706] Chr19:36008613 [GRCh38]
Chr19:36499515 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.355C>T (p.Arg119Trp) single nucleotide variant not provided [RCV000592563] Chr19:36007193 [GRCh38]
Chr19:36498095 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.121_122dup (p.Ser41fs) microsatellite not provided [RCV000598902] Chr19:36008559..36008560 [GRCh38]
Chr19:36499461..36499462 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.511_526del (p.Arg171fs) deletion not provided [RCV000599276] Chr19:36006842..36006857 [GRCh38]
Chr19:36497744..36497759 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.888C>T (p.Ser296=) single nucleotide variant not provided [RCV000731340] Chr19:36005417 [GRCh38]
Chr19:36496319 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.463G>A (p.Glu155Lys) single nucleotide variant not provided [RCV000733206] Chr19:36006905 [GRCh38]
Chr19:36497807 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.213C>T (p.Ala71=) single nucleotide variant not provided [RCV000731553] Chr19:36008283 [GRCh38]
Chr19:36499185 [GRCh37]
Chr19:19q13.12		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 19q13.12(chr19:36428093-36506569)x3 copy number gain See cases [RCV000447262] Chr19:36428093..36506569 [GRCh37]
Chr19:19q13.12		 likely benign
GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1 copy number loss See cases [RCV000511504] Chr19:36147111..37249653 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_001039876.3(SYNE4):c.972+5G>A single nucleotide variant not provided [RCV000993229]|not specified [RCV000599744] Chr19:36005328 [GRCh38]
Chr19:36496230 [GRCh37]
Chr19:19q13.12		 likely benign|uncertain significance
NM_001039876.3(SYNE4):c.7C>T (p.Leu3=) single nucleotide variant SYNE4-related condition [RCV003900364]|not provided [RCV000948477]|not specified [RCV000605868] Chr19:36008675 [GRCh38]
Chr19:36499577 [GRCh37]
Chr19:19q13.12		 benign|likely benign
NM_001039876.3(SYNE4):c.1157G>C (p.Arg386Pro) single nucleotide variant not provided [RCV000595178] Chr19:36003395 [GRCh38]
Chr19:36494297 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.128+10G>A single nucleotide variant not provided [RCV000915094]|not specified [RCV000615135] Chr19:36008544 [GRCh38]
Chr19:36499446 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.756G>A (p.Ala252=) single nucleotide variant SYNE4-related condition [RCV003905635]|not provided [RCV000729445] Chr19:36006534 [GRCh38]
Chr19:36497436 [GRCh37]
Chr19:19q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001039876.3(SYNE4):c.940C>T (p.His314Tyr) single nucleotide variant not specified [RCV000615818] Chr19:36005365 [GRCh38]
Chr19:36496267 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.1157G>A (p.Arg386Gln) single nucleotide variant not provided [RCV000842352]|not specified [RCV000613344] Chr19:36003395 [GRCh38]
Chr19:36494297 [GRCh37]
Chr19:19q13.12		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) single nucleotide variant not provided [RCV001288848]|not specified [RCV000607873] Chr19:36005343 [GRCh38]
Chr19:36496245 [GRCh37]
Chr19:19q13.12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr) single nucleotide variant SYNE4-related condition [RCV003945458]|not provided [RCV000657970]|not specified [RCV000613846] Chr19:36006526 [GRCh38]
Chr19:36497428 [GRCh37]
Chr19:19q13.12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001039876.3(SYNE4):c.1020G>A (p.Glu340=) single nucleotide variant not provided [RCV000957743]|not specified [RCV000608967] Chr19:36003624 [GRCh38]
Chr19:36494526 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.-22T>G single nucleotide variant not specified [RCV000609053] Chr19:36008703 [GRCh38]
Chr19:36499605 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.789A>G (p.Gln263=) single nucleotide variant not provided [RCV000955554]|not specified [RCV000614518] Chr19:36006501 [GRCh38]
Chr19:36497403 [GRCh37]
Chr19:19q13.12		 benign|likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001039876.3(SYNE4):c.129-17C>T single nucleotide variant not provided [RCV001540424] Chr19:36008384 [GRCh38]
Chr19:36499286 [GRCh37]
Chr19:19q13.12		 benign|likely benign
NM_001039876.3(SYNE4):c.867+78C>G single nucleotide variant not provided [RCV001568148] Chr19:36006345 [GRCh38]
Chr19:36497247 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.660C>T (p.Val220=) single nucleotide variant not provided [RCV000924084] Chr19:36006630 [GRCh38]
Chr19:36497532 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.391G>A (p.Ala131Thr) single nucleotide variant SYNE4-related condition [RCV003910723]|not provided [RCV000899743] Chr19:36007157 [GRCh38]
Chr19:36498059 [GRCh37]
Chr19:19q13.12		 benign|likely benign
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys) single nucleotide variant not provided [RCV002305547]|not specified [RCV000825246] Chr19:36006665 [GRCh38]
Chr19:36497567 [GRCh37]
Chr19:19q13.12		 likely benign|uncertain significance
NM_001039876.3(SYNE4):c.59C>T (p.Pro20Leu) single nucleotide variant not specified [RCV000825247] Chr19:36008623 [GRCh38]
Chr19:36499525 [GRCh37]
Chr19:19q13.12		 likely benign
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) copy number loss Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] Chr19:35111811..37744992 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
NM_001039876.3(SYNE4):c.249C>T (p.Tyr83=) single nucleotide variant SYNE4-related condition [RCV003908138]|not provided [RCV000842190] Chr19:36008247 [GRCh38]
Chr19:36499149 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.638C>T (p.Thr213Met) single nucleotide variant SYNE4-related condition [RCV003948013]|not provided [RCV000836799]|not specified [RCV000825248] Chr19:36006652 [GRCh38]
Chr19:36497554 [GRCh37]
Chr19:19q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_001039876.3(SYNE4):c.1032-2A>T single nucleotide variant not specified [RCV000826045] Chr19:36003522 [GRCh38]
Chr19:36494424 [GRCh37]
Chr19:19q13.12		 pathogenic|uncertain significance
NM_001039876.3(SYNE4):c.916G>C (p.Gly306Arg) single nucleotide variant SYNE4-related condition [RCV003928317]|not provided [RCV000842435] Chr19:36005389 [GRCh38]
Chr19:36496291 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.80A>T (p.Asp27Val) single nucleotide variant not specified [RCV004303857] Chr19:36008602 [GRCh38]
Chr19:36499504 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.458G>A (p.Arg153His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 76 [RCV003140240]|not provided [RCV003106337] Chr19:36006910 [GRCh38]
Chr19:36497812 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_33167170)_(36643309_?)dup duplication Hereditary spastic paraplegia 75 [RCV003107659] Chr19:33167170..36643309 [GRCh37]
Chr19:19q13.11-13.12		 uncertain significance
NM_001039876.3(SYNE4):c.43C>A (p.Pro15Thr) single nucleotide variant not provided [RCV003126954] Chr19:36008639 [GRCh38]
Chr19:36499541 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.972+143A>G single nucleotide variant not provided [RCV001558676] Chr19:36005190 [GRCh38]
Chr19:36496092 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1125C>T (p.Pro375=) single nucleotide variant not provided [RCV000978461] Chr19:36003427 [GRCh38]
Chr19:36494329 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.465G>A (p.Glu155=) single nucleotide variant not provided [RCV000982233] Chr19:36006903 [GRCh38]
Chr19:36497805 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.973-271G>A single nucleotide variant not provided [RCV001552688] Chr19:36003942 [GRCh38]
Chr19:36494844 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.618+24del deletion not provided [RCV001555031] Chr19:36006726 [GRCh38]
Chr19:36497628 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.867+143A>G single nucleotide variant not provided [RCV001555233] Chr19:36006280 [GRCh38]
Chr19:36497182 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.499C>T (p.Arg167Trp) single nucleotide variant SYNE4-related hearing loss [RCV002465363] Chr19:36006869 [GRCh38]
Chr19:36497771 [GRCh37]
Chr19:19q13.12		 not provided
NM_001039876.3(SYNE4):c.279+298C>G single nucleotide variant not provided [RCV001656033] Chr19:36007919 [GRCh38]
Chr19:36498821 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.128+44G>A single nucleotide variant not provided [RCV001689030] Chr19:36008510 [GRCh38]
Chr19:36499412 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.972+97dup duplication not provided [RCV001617428] Chr19:36005223..36005224 [GRCh38]
Chr19:36496125..36496126 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.280-245A>G single nucleotide variant not provided [RCV001695298] Chr19:36007513 [GRCh38]
Chr19:36498415 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.972+263A>C single nucleotide variant not provided [RCV001618793] Chr19:36005070 [GRCh38]
Chr19:36495972 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.972+114T>C single nucleotide variant not provided [RCV001710225] Chr19:36005219 [GRCh38]
Chr19:36496121 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.118G>T (p.Glu40Ter) single nucleotide variant Deafness, autosomal recessive 76 [RCV001292815] Chr19:36008564 [GRCh38]
Chr19:36499466 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.867+328_867+331del deletion not provided [RCV001617641] Chr19:36006092..36006095 [GRCh38]
Chr19:36496994..36496997 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.990A>G (p.Ala330=) single nucleotide variant not provided [RCV001786012] Chr19:36003654 [GRCh38]
Chr19:36494556 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.308A>G (p.Glu103Gly) single nucleotide variant not provided [RCV001754451] Chr19:36007240 [GRCh38]
Chr19:36498142 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.574C>T (p.Arg192Trp) single nucleotide variant not provided [RCV001733056] Chr19:36006794 [GRCh38]
Chr19:36497696 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NM_001039876.3(SYNE4):c.1173del (p.Tyr392fs) deletion not provided [RCV002045498]|not specified [RCV003155459] Chr19:36003379 [GRCh38]
Chr19:36494281 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.77C>T (p.Ala26Val) single nucleotide variant not provided [RCV001894014] Chr19:36008605 [GRCh38]
Chr19:36499507 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_35521725)_(36643309_?)del deletion Brugada syndrome 5 [RCV001910265] Chr19:35521725..36643309 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3 copy number gain not provided [RCV001833065] Chr19:36019064..36516110 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.1187G>A (p.Ser396Asn) single nucleotide variant not provided [RCV001863297] Chr19:36003365 [GRCh38]
Chr19:36494267 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.250G>A (p.Glu84Lys) single nucleotide variant not provided [RCV001948261]|not specified [RCV004041850] Chr19:36008246 [GRCh38]
Chr19:36499148 [GRCh37]
Chr19:19q13.12		 likely benign|uncertain significance
NM_001039876.3(SYNE4):c.1039G>A (p.Asp347Asn) single nucleotide variant not provided [RCV001905334] Chr19:36003513 [GRCh38]
Chr19:36494415 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.442C>T (p.Arg148Ter) single nucleotide variant not provided [RCV001918087] Chr19:36006926 [GRCh38]
Chr19:36497828 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.601C>A (p.Leu201Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 76 [RCV002482607]|not provided [RCV001886043]|not specified [RCV004041078] Chr19:36006767 [GRCh38]
Chr19:36497669 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.1081TTCCTCCTC[1] (p.361FLL[1]) microsatellite not provided [RCV001937157] Chr19:36003454..36003462 [GRCh38]
Chr19:36494356..36494364 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.639G>A (p.Thr213=) single nucleotide variant not provided [RCV002165034] Chr19:36006651 [GRCh38]
Chr19:36497553 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1078C>A (p.Leu360Ile) single nucleotide variant not provided [RCV002171749] Chr19:36003474 [GRCh38]
Chr19:36494376 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.423+14G>A single nucleotide variant not provided [RCV002133466] Chr19:36007111 [GRCh38]
Chr19:36498013 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.972+10T>A single nucleotide variant not provided [RCV002096051] Chr19:36005323 [GRCh38]
Chr19:36496225 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.424-17T>C single nucleotide variant not provided [RCV002096793] Chr19:36006961 [GRCh38]
Chr19:36497863 [GRCh37]
Chr19:19q13.12		 benign
NM_001039876.3(SYNE4):c.273C>T (p.His91=) single nucleotide variant not provided [RCV002202448] Chr19:36008223 [GRCh38]
Chr19:36499125 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.973-18G>C single nucleotide variant not provided [RCV002123505] Chr19:36003689 [GRCh38]
Chr19:36494591 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.973-20T>C single nucleotide variant not provided [RCV002178284] Chr19:36003691 [GRCh38]
Chr19:36494593 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.477G>A (p.Ala159=) single nucleotide variant not provided [RCV003110796] Chr19:36006891 [GRCh38]
Chr19:36497793 [GRCh37]
Chr19:19q13.12		 likely benign
NC_000019.9:g.(?_36494239)_(36494593_?)dup duplication not provided [RCV003122375] Chr19:36494239..36494593 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.209C>T (p.Pro70Leu) single nucleotide variant not provided [RCV003129508] Chr19:36008287 [GRCh38]
Chr19:36499189 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.494C>T (p.Ala165Val) single nucleotide variant not provided [RCV002467189] Chr19:36006874 [GRCh38]
Chr19:36497776 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.377del (p.Gly126fs) deletion Nonsyndromic genetic hearing loss [RCV002308678] Chr19:36007171 [GRCh38]
Chr19:36498073 [GRCh37]
Chr19:19q13.12		 likely pathogenic
NM_001039876.3(SYNE4):c.449C>T (p.Ala150Val) single nucleotide variant not specified [RCV004169454] Chr19:36006919 [GRCh38]
Chr19:36497821 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.755C>T (p.Ala252Val) single nucleotide variant not provided [RCV002614884] Chr19:36006535 [GRCh38]
Chr19:36497437 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.356G>A (p.Arg119Gln) single nucleotide variant not provided [RCV002908883] Chr19:36007192 [GRCh38]
Chr19:36498094 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV002948259] Chr19:36008677 [GRCh38]
Chr19:36499579 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.95C>A (p.Thr32Asn) single nucleotide variant not provided [RCV003098929] Chr19:36008587 [GRCh38]
Chr19:36499489 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.812T>C (p.Val271Ala) single nucleotide variant not specified [RCV004219925] Chr19:36006478 [GRCh38]
Chr19:36497380 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.16C>T (p.Pro6Ser) single nucleotide variant not specified [RCV004113044] Chr19:36008666 [GRCh38]
Chr19:36499568 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.476C>T (p.Ala159Val) single nucleotide variant not specified [RCV004224318] Chr19:36006892 [GRCh38]
Chr19:36497794 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.223_225delinsTCA (p.Pro75Ser) indel not provided [RCV002510191] Chr19:36008271..36008273 [GRCh38]
Chr19:36499173..36499175 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.796G>T (p.Ala266Ser) single nucleotide variant not specified [RCV004158213] Chr19:36006494 [GRCh38]
Chr19:36497396 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.575G>A (p.Arg192Gln) single nucleotide variant not specified [RCV004088383] Chr19:36006793 [GRCh38]
Chr19:36497695 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.1196A>G (p.Asn399Ser) single nucleotide variant not provided [RCV002510035] Chr19:36003356 [GRCh38]
Chr19:36494258 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.905A>C (p.Glu302Ala) single nucleotide variant not specified [RCV004102312] Chr19:36005400 [GRCh38]
Chr19:36496302 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.929G>T (p.Arg310Leu) single nucleotide variant not specified [RCV004098895] Chr19:36005376 [GRCh38]
Chr19:36496278 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.541C>T (p.Arg181Trp) single nucleotide variant not specified [RCV004205651] Chr19:36006827 [GRCh38]
Chr19:36497729 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.579G>A (p.Arg193=) single nucleotide variant not provided [RCV002781367] Chr19:36006789 [GRCh38]
Chr19:36497691 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.820G>A (p.Glu274Lys) single nucleotide variant not specified [RCV004135543] Chr19:36006470 [GRCh38]
Chr19:36497372 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.321C>T (p.Asn107=) single nucleotide variant not provided [RCV003043150] Chr19:36007227 [GRCh38]
Chr19:36498129 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.182T>A (p.Phe61Tyr) single nucleotide variant not specified [RCV004178011] Chr19:36008314 [GRCh38]
Chr19:36499216 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.937C>T (p.Arg313Cys) single nucleotide variant not provided [RCV002664078] Chr19:36005368 [GRCh38]
Chr19:36496270 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.1050C>T (p.Ser350=) single nucleotide variant not provided [RCV003041646] Chr19:36003502 [GRCh38]
Chr19:36494404 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.423+16C>G single nucleotide variant not provided [RCV002626486] Chr19:36007109 [GRCh38]
Chr19:36498011 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.669C>T (p.Asp223=) single nucleotide variant SYNE4-related condition [RCV003896248]|not provided [RCV002600140] Chr19:36006621 [GRCh38]
Chr19:36497523 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.692G>A (p.Gly231Glu) single nucleotide variant not provided [RCV002937094] Chr19:36006598 [GRCh38]
Chr19:36497500 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.139G>C (p.Ala47Pro) single nucleotide variant not provided [RCV003087011] Chr19:36008357 [GRCh38]
Chr19:36499259 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.129-16G>A single nucleotide variant not provided [RCV002806101] Chr19:36008383 [GRCh38]
Chr19:36499285 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.220C>A (p.Pro74Thr) single nucleotide variant not specified [RCV004133624] Chr19:36008276 [GRCh38]
Chr19:36499178 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.847G>A (p.Gly283Ser) single nucleotide variant not specified [RCV004104773] Chr19:36006443 [GRCh38]
Chr19:36497345 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.255C>G (p.Asp85Glu) single nucleotide variant not provided [RCV002581059] Chr19:36008241 [GRCh38]
Chr19:36499143 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.954C>A (p.Ser318=) single nucleotide variant not provided [RCV002632309] Chr19:36005351 [GRCh38]
Chr19:36496253 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1031+6G>A single nucleotide variant not provided [RCV002589415] Chr19:36003607 [GRCh38]
Chr19:36494509 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.753G>A (p.Pro251=) single nucleotide variant not provided [RCV002590071] Chr19:36006537 [GRCh38]
Chr19:36497439 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.961C>T (p.Arg321Trp) single nucleotide variant not provided [RCV003069880] Chr19:36005344 [GRCh38]
Chr19:36496246 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.129-17C>G single nucleotide variant not provided [RCV002588839] Chr19:36008384 [GRCh38]
Chr19:36499286 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.336C>A (p.Cys112Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 76 [RCV003155585]|not provided [RCV003778925] Chr19:36007212 [GRCh38]
Chr19:36498114 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.653T>A (p.Leu218Ter) single nucleotide variant Nonsyndromic genetic hearing loss [RCV003155796] Chr19:36006637 [GRCh38]
Chr19:36497539 [GRCh37]
Chr19:19q13.12		 likely pathogenic
NM_001039876.3(SYNE4):c.542G>A (p.Arg181Gln) single nucleotide variant not specified [RCV004269589] Chr19:36006826 [GRCh38]
Chr19:36497728 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.973-2A>T single nucleotide variant not provided [RCV003779811]|not specified [RCV003226696] Chr19:36003673 [GRCh38]
Chr19:36494575 [GRCh37]
Chr19:19q13.12		 likely pathogenic|uncertain significance
NM_001039876.3(SYNE4):c.58C>T (p.Pro20Ser) single nucleotide variant not specified [RCV004287405] Chr19:36008624 [GRCh38]
Chr19:36499526 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.899T>C (p.Met300Thr) single nucleotide variant not specified [RCV004264550] Chr19:36005406 [GRCh38]
Chr19:36496308 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.497A>T (p.Gln166Leu) single nucleotide variant not specified [RCV004308663] Chr19:36006871 [GRCh38]
Chr19:36497773 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.702del (p.Trp236fs) deletion not provided [RCV003324924] Chr19:36006588 [GRCh38]
Chr19:36497490 [GRCh37]
Chr19:19q13.12		 pathogenic|likely pathogenic
NM_001039876.3(SYNE4):c.645C>T (p.Asp215=) single nucleotide variant not provided [RCV003569482] Chr19:36006645 [GRCh38]
Chr19:36497547 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.163T>C (p.Leu55=) single nucleotide variant not provided [RCV003712346] Chr19:36008333 [GRCh38]
Chr19:36499235 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.156G>A (p.Gln52=) single nucleotide variant not provided [RCV003543503] Chr19:36008340 [GRCh38]
Chr19:36499242 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.249C>G (p.Tyr83Ter) single nucleotide variant not provided [RCV003570163] Chr19:36008247 [GRCh38]
Chr19:36499149 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.424-4C>G single nucleotide variant not provided [RCV003874701] Chr19:36006948 [GRCh38]
Chr19:36497850 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.400C>T (p.Gln134Ter) single nucleotide variant not provided [RCV003568980] Chr19:36007148 [GRCh38]
Chr19:36498050 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001297735.3(SYNE4):c.280-273del deletion not provided [RCV003701583] Chr19:36006944 [GRCh38]
Chr19:36497846 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.915C>T (p.Leu305=) single nucleotide variant not provided [RCV003571386] Chr19:36005390 [GRCh38]
Chr19:36496292 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1062G>A (p.Leu354=) single nucleotide variant not provided [RCV003570766] Chr19:36003490 [GRCh38]
Chr19:36494392 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1128G>A (p.Ala376=) single nucleotide variant not provided [RCV003873455] Chr19:36003424 [GRCh38]
Chr19:36494326 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.108G>A (p.Ala36=) single nucleotide variant not provided [RCV003874904] Chr19:36008574 [GRCh38]
Chr19:36499476 [GRCh37]
Chr19:19q13.12		 likely benign
Single allele deletion not provided [RCV003448708] Chr19:35225414..37357598 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
GRCh37/hg19 19q13.12(chr19:36312941-36751702)x3 copy number gain not provided [RCV003485199] Chr19:36312941..36751702 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.1132G>A (p.Gly378Arg) single nucleotide variant not provided [RCV003480312] Chr19:36003420 [GRCh38]
Chr19:36494322 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.155_209del (p.Gln52fs) deletion not provided [RCV003576989] Chr19:36008287..36008341 [GRCh38]
Chr19:36499189..36499243 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.867+18del deletion not provided [RCV003824486] Chr19:36006405 [GRCh38]
Chr19:36497307 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.246C>G (p.Ser82=) single nucleotide variant not provided [RCV003849174] Chr19:36008250 [GRCh38]
Chr19:36499152 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.762C>T (p.Asp254=) single nucleotide variant not provided [RCV003831470] Chr19:36006528 [GRCh38]
Chr19:36497430 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.889C>T (p.Arg297Ter) single nucleotide variant not provided [RCV003849310] Chr19:36005416 [GRCh38]
Chr19:36496318 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.48C>A (p.Leu16=) single nucleotide variant not provided [RCV003692838] Chr19:36008634 [GRCh38]
Chr19:36499536 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.618+19C>T single nucleotide variant not provided [RCV003695267] Chr19:36006731 [GRCh38]
Chr19:36497633 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.589C>T (p.Leu197=) single nucleotide variant not provided [RCV003831385] Chr19:36006779 [GRCh38]
Chr19:36497681 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.279+18A>G single nucleotide variant not provided [RCV003662021] Chr19:36008199 [GRCh38]
Chr19:36499101 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.672G>C (p.Ser224=) single nucleotide variant not provided [RCV003659975] Chr19:36006618 [GRCh38]
Chr19:36497520 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.469C>T (p.Leu157=) single nucleotide variant not provided [RCV003662333] Chr19:36006899 [GRCh38]
Chr19:36497801 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1080C>G (p.Leu360=) single nucleotide variant not provided [RCV003574126] Chr19:36003472 [GRCh38]
Chr19:36494374 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.619-11C>T single nucleotide variant not provided [RCV003694099] Chr19:36006682 [GRCh38]
Chr19:36497584 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.128+13G>A single nucleotide variant not provided [RCV003687342] Chr19:36008541 [GRCh38]
Chr19:36499443 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.832C>T (p.Gln278Ter) single nucleotide variant not provided [RCV003739879] Chr19:36006458 [GRCh38]
Chr19:36497360 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.129-14C>A single nucleotide variant not provided [RCV003689266] Chr19:36008381 [GRCh38]
Chr19:36499283 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.868-13G>C single nucleotide variant not provided [RCV003713013] Chr19:36005450 [GRCh38]
Chr19:36496352 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1209A>C (p.Pro403=) single nucleotide variant not provided [RCV003829031] Chr19:36003343 [GRCh38]
Chr19:36494245 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.249del (p.Ser82_Tyr83insTer) deletion not provided [RCV003691401] Chr19:36008247 [GRCh38]
Chr19:36499149 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.354C>T (p.Arg118=) single nucleotide variant not provided [RCV003714394] Chr19:36007194 [GRCh38]
Chr19:36498096 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.678G>A (p.Trp226Ter) single nucleotide variant not provided [RCV003877668] Chr19:36006612 [GRCh38]
Chr19:36497514 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.618+1G>A single nucleotide variant not provided [RCV003662748] Chr19:36006749 [GRCh38]
Chr19:36497651 [GRCh37]
Chr19:19q13.12		 likely pathogenic
NM_001039876.3(SYNE4):c.868-2A>G single nucleotide variant not provided [RCV003694639] Chr19:36005439 [GRCh38]
Chr19:36496341 [GRCh37]
Chr19:19q13.12		 likely pathogenic
NM_001039876.3(SYNE4):c.361C>T (p.Gln121Ter) single nucleotide variant not provided [RCV003692286] Chr19:36007187 [GRCh38]
Chr19:36498089 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.531G>A (p.Glu177=) single nucleotide variant not provided [RCV003693159] Chr19:36006837 [GRCh38]
Chr19:36497739 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.297G>A (p.Leu99=) single nucleotide variant not provided [RCV003714639] Chr19:36007251 [GRCh38]
Chr19:36498153 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.972+20G>C single nucleotide variant not provided [RCV003573042] Chr19:36005313 [GRCh38]
Chr19:36496215 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.360G>A (p.Leu120=) single nucleotide variant not provided [RCV003692015] Chr19:36007188 [GRCh38]
Chr19:36498090 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.618+2T>A single nucleotide variant not provided [RCV003877309] Chr19:36006748 [GRCh38]
Chr19:36497650 [GRCh37]
Chr19:19q13.12		 likely pathogenic
NM_001039876.3(SYNE4):c.129-15C>T single nucleotide variant not provided [RCV003714037] Chr19:36008382 [GRCh38]
Chr19:36499284 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.89del (p.Gly30fs) deletion not provided [RCV003544243] Chr19:36008593 [GRCh38]
Chr19:36499495 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.204T>C (p.Asn68=) single nucleotide variant not provided [RCV003833786] Chr19:36008292 [GRCh38]
Chr19:36499194 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.111C>T (p.Ser37=) single nucleotide variant not provided [RCV003849809] Chr19:36008571 [GRCh38]
Chr19:36499473 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.435G>A (p.Val145=) single nucleotide variant not provided [RCV003581014] Chr19:36006933 [GRCh38]
Chr19:36497835 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.861C>G (p.Gly287=) single nucleotide variant not provided [RCV003698295] Chr19:36006429 [GRCh38]
Chr19:36497331 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1038C>T (p.Pro346=) single nucleotide variant not provided [RCV003834502] Chr19:36003514 [GRCh38]
Chr19:36494416 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.800G>A (p.Arg267Gln) single nucleotide variant not provided [RCV003559416] Chr19:36006490 [GRCh38]
Chr19:36497392 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.27T>C (p.Pro9=) single nucleotide variant not provided [RCV003580502] Chr19:36008655 [GRCh38]
Chr19:36499557 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.619-6A>G single nucleotide variant not provided [RCV003672200] Chr19:36006677 [GRCh38]
Chr19:36497579 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.468G>A (p.Ala156=) single nucleotide variant not provided [RCV003718028] Chr19:36006900 [GRCh38]
Chr19:36497802 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.423+7A>T single nucleotide variant not provided [RCV003696778] Chr19:36007118 [GRCh38]
Chr19:36498020 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.279+19G>A single nucleotide variant not provided [RCV003699948] Chr19:36008198 [GRCh38]
Chr19:36499100 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.619-10T>C single nucleotide variant not provided [RCV003699511] Chr19:36006681 [GRCh38]
Chr19:36497583 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.309G>A (p.Glu103=) single nucleotide variant not provided [RCV003674287] Chr19:36007239 [GRCh38]
Chr19:36498141 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.777G>A (p.Gly259=) single nucleotide variant not provided [RCV003671321] Chr19:36006513 [GRCh38]
Chr19:36497415 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.528G>A (p.Leu176=) single nucleotide variant not provided [RCV003700673] Chr19:36006840 [GRCh38]
Chr19:36497742 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.114A>C (p.Gly38=) single nucleotide variant not provided [RCV003839912] Chr19:36008568 [GRCh38]
Chr19:36499470 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1032-14A>G single nucleotide variant not provided [RCV003816969] Chr19:36003534 [GRCh38]
Chr19:36494436 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.336C>T (p.Cys112=) single nucleotide variant not provided [RCV003725944] Chr19:36007212 [GRCh38]
Chr19:36498114 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.707G>A (p.Trp236Ter) single nucleotide variant not provided [RCV003561899] Chr19:36006583 [GRCh38]
Chr19:36497485 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.129-1G>T single nucleotide variant not provided [RCV003560107] Chr19:36008368 [GRCh38]
Chr19:36499270 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.702G>C (p.Gly234=) single nucleotide variant not provided [RCV003669936] Chr19:36006588 [GRCh38]
Chr19:36497490 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.300G>A (p.Glu100=) single nucleotide variant not provided [RCV003839243] Chr19:36007248 [GRCh38]
Chr19:36498150 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1101G>T (p.Leu367=) single nucleotide variant not provided [RCV003672056] Chr19:36003451 [GRCh38]
Chr19:36494353 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.128+9C>G single nucleotide variant not provided [RCV003672634] Chr19:36008545 [GRCh38]
Chr19:36499447 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.493del (p.Ala165fs) deletion not provided [RCV003668617] Chr19:36006875 [GRCh38]
Chr19:36497777 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.1134A>T (p.Gly378=) single nucleotide variant not provided [RCV003723617] Chr19:36003418 [GRCh38]
Chr19:36494320 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.279+20A>T single nucleotide variant not provided [RCV003667397] Chr19:36008197 [GRCh38]
Chr19:36499099 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1060C>T (p.Leu354=) single nucleotide variant not provided [RCV003835406] Chr19:36003492 [GRCh38]
Chr19:36494394 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.423+11G>A single nucleotide variant not provided [RCV003666708] Chr19:36007114 [GRCh38]
Chr19:36498016 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.117G>A (p.Glu39=) single nucleotide variant not provided [RCV003852452] Chr19:36008565 [GRCh38]
Chr19:36499467 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.280-18G>C single nucleotide variant not provided [RCV003550159] Chr19:36007286 [GRCh38]
Chr19:36498188 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.675C>T (p.Asp225=) single nucleotide variant not provided [RCV003723978] Chr19:36006615 [GRCh38]
Chr19:36497517 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.621G>A (p.Val207=) single nucleotide variant not provided [RCV003672292] Chr19:36006669 [GRCh38]
Chr19:36497571 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1099C>T (p.Leu367=) single nucleotide variant not provided [RCV003699201] Chr19:36003453 [GRCh38]
Chr19:36494355 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1038C>G (p.Pro346=) single nucleotide variant not provided [RCV003667329] Chr19:36003514 [GRCh38]
Chr19:36494416 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.345G>A (p.Gly115=) single nucleotide variant not provided [RCV003814349] Chr19:36007203 [GRCh38]
Chr19:36498105 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.207G>A (p.Glu69=) single nucleotide variant not provided [RCV003717321] Chr19:36008289 [GRCh38]
Chr19:36499191 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.939T>G (p.Arg313=) single nucleotide variant not provided [RCV003723623] Chr19:36005366 [GRCh38]
Chr19:36496268 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.424-9T>C single nucleotide variant not provided [RCV003672751] Chr19:36006953 [GRCh38]
Chr19:36497855 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.148C>T (p.Leu50=) single nucleotide variant not provided [RCV003674507] Chr19:36008348 [GRCh38]
Chr19:36499250 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1146C>T (p.Cys382=) single nucleotide variant not provided [RCV003707869] Chr19:36003406 [GRCh38]
Chr19:36494308 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.963G>T (p.Arg321=) single nucleotide variant not provided [RCV003704409] Chr19:36005342 [GRCh38]
Chr19:36496244 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.222C>A (p.Pro74=) single nucleotide variant not provided [RCV003822798] Chr19:36008274 [GRCh38]
Chr19:36499176 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.331C>T (p.Leu111=) single nucleotide variant not provided [RCV003734070] Chr19:36007217 [GRCh38]
Chr19:36498119 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.672G>A (p.Ser224=) single nucleotide variant not provided [RCV003726935] Chr19:36006618 [GRCh38]
Chr19:36497520 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.280-7T>C single nucleotide variant not provided [RCV003865550] Chr19:36007275 [GRCh38]
Chr19:36498177 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1089C>A (p.Leu363=) single nucleotide variant not provided [RCV003847392] Chr19:36003463 [GRCh38]
Chr19:36494365 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.973-4T>A single nucleotide variant not provided [RCV003730900] Chr19:36003675 [GRCh38]
Chr19:36494577 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.294C>T (p.Gly98=) single nucleotide variant not provided [RCV003683939] Chr19:36007254 [GRCh38]
Chr19:36498156 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.867+13C>T single nucleotide variant not provided [RCV003682305] Chr19:36006410 [GRCh38]
Chr19:36497312 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.42G>A (p.Glu14=) single nucleotide variant not provided [RCV003867922] Chr19:36008640 [GRCh38]
Chr19:36499542 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.972+19A>G single nucleotide variant not provided [RCV003868014] Chr19:36005314 [GRCh38]
Chr19:36496216 [GRCh37]
Chr19:19q13.12		 likely benign
GRCh37/hg19 19q13.12(chr19:36451071-36752221)x3 copy number gain not specified [RCV003986106] Chr19:36451071..36752221 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
NM_001039876.3(SYNE4):c.144G>A (p.Gln48=) single nucleotide variant not provided [RCV003705539] Chr19:36008352 [GRCh38]
Chr19:36499254 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.972+2T>A single nucleotide variant not provided [RCV003867599] Chr19:36005331 [GRCh38]
Chr19:36496233 [GRCh37]
Chr19:19q13.12		 likely pathogenic
NM_001039876.3(SYNE4):c.1005G>A (p.Gln335=) single nucleotide variant not provided [RCV003704662] Chr19:36003639 [GRCh38]
Chr19:36494541 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.867+18T>C single nucleotide variant not provided [RCV003872305] Chr19:36006405 [GRCh38]
Chr19:36497307 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.648G>A (p.Gln216=) single nucleotide variant not provided [RCV003734476] Chr19:36006642 [GRCh38]
Chr19:36497544 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.261T>G (p.Ala87=) single nucleotide variant not provided [RCV003737209] Chr19:36008235 [GRCh38]
Chr19:36499137 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.424-6C>T single nucleotide variant not provided [RCV003867254] Chr19:36006950 [GRCh38]
Chr19:36497852 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.105C>T (p.Pro35=) single nucleotide variant not provided [RCV003719944] Chr19:36008577 [GRCh38]
Chr19:36499479 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.327G>A (p.Leu109=) single nucleotide variant not provided [RCV003843336] Chr19:36007221 [GRCh38]
Chr19:36498123 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.423+13G>A single nucleotide variant not provided [RCV003721050] Chr19:36007112 [GRCh38]
Chr19:36498014 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.720C>T (p.Ser240=) single nucleotide variant not provided [RCV003731442] Chr19:36006570 [GRCh38]
Chr19:36497472 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.867+16C>A single nucleotide variant not provided [RCV003723071] Chr19:36006407 [GRCh38]
Chr19:36497309 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.252G>A (p.Glu84=) single nucleotide variant not provided [RCV003554216] Chr19:36008244 [GRCh38]
Chr19:36499146 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.759G>C (p.Gly253=) single nucleotide variant not provided [RCV003681421] Chr19:36006531 [GRCh38]
Chr19:36497433 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.612C>T (p.Tyr204=) single nucleotide variant not provided [RCV003708863] Chr19:36006756 [GRCh38]
Chr19:36497658 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.78G>A (p.Ala26=) single nucleotide variant not provided [RCV003732390] Chr19:36008604 [GRCh38]
Chr19:36499506 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.279+11G>A single nucleotide variant not provided [RCV003675423] Chr19:36008206 [GRCh38]
Chr19:36499108 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.921C>T (p.His307=) single nucleotide variant not provided [RCV003708334] Chr19:36005384 [GRCh38]
Chr19:36496286 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.1032-16G>T single nucleotide variant not provided [RCV003562966] Chr19:36003536 [GRCh38]
Chr19:36494438 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.624C>T (p.Phe208=) single nucleotide variant not provided [RCV003819201] Chr19:36006666 [GRCh38]
Chr19:36497568 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.128+14C>T single nucleotide variant not provided [RCV003820519] Chr19:36008540 [GRCh38]
Chr19:36499442 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.303A>T (p.Val101=) single nucleotide variant not provided [RCV003853312] Chr19:36007245 [GRCh38]
Chr19:36498147 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.483T>C (p.Gly161=) single nucleotide variant not provided [RCV003568891] Chr19:36006885 [GRCh38]
Chr19:36497787 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.282C>T (p.His94=) single nucleotide variant not provided [RCV003710467] Chr19:36007266 [GRCh38]
Chr19:36498168 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.128+9C>T single nucleotide variant not provided [RCV003675888] Chr19:36008545 [GRCh38]
Chr19:36499447 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.828_829del (p.Cys276fs) microsatellite not provided [RCV003677077] Chr19:36006461..36006462 [GRCh38]
Chr19:36497363..36497364 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.46del (p.Leu16fs) deletion not provided [RCV003707889] Chr19:36008636 [GRCh38]
Chr19:36499538 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.333G>A (p.Leu111=) single nucleotide variant not provided [RCV003680134] Chr19:36007215 [GRCh38]
Chr19:36498117 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.781T>C (p.Leu261=) single nucleotide variant not provided [RCV003706486] Chr19:36006509 [GRCh38]
Chr19:36497411 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.393A>G (p.Ala131=) single nucleotide variant not provided [RCV003705271] Chr19:36007155 [GRCh38]
Chr19:36498057 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.253_259dup (p.Ala87fs) duplication not provided [RCV003728675] Chr19:36008236..36008237 [GRCh38]
Chr19:36499138..36499139 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.128+16T>A single nucleotide variant not provided [RCV003859780] Chr19:36008538 [GRCh38]
Chr19:36499440 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.973-14C>G single nucleotide variant not provided [RCV003566577] Chr19:36003685 [GRCh38]
Chr19:36494587 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.423+7A>G single nucleotide variant not provided [RCV003704090] Chr19:36007118 [GRCh38]
Chr19:36498020 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.662_666del (p.Glu221fs) deletion not provided [RCV003840912] Chr19:36006624..36006628 [GRCh38]
Chr19:36497526..36497530 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.973-9C>A single nucleotide variant not provided [RCV003844706] Chr19:36003680 [GRCh38]
Chr19:36494582 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.972+1G>A single nucleotide variant not provided [RCV003553747] Chr19:36005332 [GRCh38]
Chr19:36496234 [GRCh37]
Chr19:19q13.12		 likely pathogenic
NM_001039876.3(SYNE4):c.588G>A (p.Gln196=) single nucleotide variant not provided [RCV003566660] Chr19:36006780 [GRCh38]
Chr19:36497682 [GRCh37]
Chr19:19q13.12		 likely benign
NM_001039876.3(SYNE4):c.853G>T (p.Gly285Ter) single nucleotide variant not provided [RCV003842755] Chr19:36006437 [GRCh38]
Chr19:36497339 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_001039876.3(SYNE4):c.1048T>C (p.Ser350Pro) single nucleotide variant not specified [RCV004463676] Chr19:36003504 [GRCh38]
Chr19:36494406 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.314A>G (p.Glu105Gly) single nucleotide variant not specified [RCV004463678] Chr19:36007234 [GRCh38]
Chr19:36498136 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.183C>A (p.Phe61Leu) single nucleotide variant not specified [RCV004463677] Chr19:36008313 [GRCh38]
Chr19:36499215 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_001039876.3(SYNE4):c.75G>C (p.Glu25Asp) single nucleotide variant not specified [RCV004463680] Chr19:36008607 [GRCh38]
Chr19:36499509 [GRCh37]
Chr19:19q13.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1624
Count of miRNA genes:307
Interacting mature miRNAs:324
Transcripts:ENST00000324444, ENST00000340477, ENST00000397428, ENST00000465425, ENST00000490730, ENST00000503121, ENST00000505054
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.

Markers in Region
RH48333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371936,500,041 - 36,500,208UniSTSGRCh37
Build 361941,191,881 - 41,192,048RGDNCBI36
Celera1933,214,221 - 33,214,388RGD
Cytogenetic Map19q13.12UniSTS
HuRef1933,005,590 - 33,005,757UniSTS
GeneMap99-GB4 RH Map19236.84UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 96 1134 312 5 179 146 1 736 106 402 976 133
Low 2306 1756 443 300 1490 276 3347 1084 2470 246 1035 606 38 1 1038 2066 6 2
Below cutoff 37 1211 147 11 440 9 841 1083 521 65 21 27 2 166 704

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA991508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB241656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324444   ⟹   ENSP00000316130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1936,003,307 - 36,008,813 (-)Ensembl
RefSeq Acc Id: ENST00000340477   ⟹   ENSP00000343152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1936,003,310 - 36,008,782 (-)Ensembl
RefSeq Acc Id: ENST00000397428   ⟹   ENSP00000380572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1936,003,310 - 36,008,619 (-)Ensembl
RefSeq Acc Id: ENST00000465425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1936,003,308 - 36,008,793 (-)Ensembl
RefSeq Acc Id: ENST00000490730   ⟹   ENSP00000422716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1936,003,310 - 36,008,793 (-)Ensembl
RefSeq Acc Id: ENST00000503121   ⟹   ENSP00000425550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1936,003,310 - 36,008,644 (-)Ensembl
RefSeq Acc Id: ENST00000505054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1936,003,307 - 36,008,610 (-)Ensembl
RefSeq Acc Id: NM_001039876   ⟹   NP_001034965
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381936,003,307 - 36,008,813 (-)NCBI
GRCh371936,494,002 - 36,499,958 (-)NCBI
Build 361941,185,842 - 41,191,512 (-)NCBI Archive
Celera1933,208,182 - 33,213,852 (-)RGD
HuRef1932,999,551 - 33,005,221 (-)RGD
CHM1_11936,495,562 - 36,501,044 (-)NCBI
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001297735   ⟹   NP_001284664
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381936,003,307 - 36,008,813 (-)NCBI
CHM1_11936,495,562 - 36,501,044 (-)NCBI
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047438344   ⟹   XP_047294300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381936,003,307 - 36,008,813 (-)NCBI
RefSeq Acc Id: XM_047438345   ⟹   XP_047294301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381936,003,307 - 36,008,813 (-)NCBI
RefSeq Acc Id: XM_047438346   ⟹   XP_047294302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381936,003,307 - 36,008,813 (-)NCBI
RefSeq Acc Id: XM_047438347   ⟹   XP_047294303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381936,003,307 - 36,008,813 (-)NCBI
RefSeq Acc Id: XM_047438348   ⟹   XP_047294304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381936,003,307 - 36,008,813 (-)NCBI
RefSeq Acc Id: XM_047438349   ⟹   XP_047294305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381936,003,307 - 36,008,813 (-)NCBI
RefSeq Acc Id: XM_047438350   ⟹   XP_047294306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381936,003,307 - 36,008,813 (-)NCBI
RefSeq Acc Id: XM_047438351   ⟹   XP_047294307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381936,003,307 - 36,008,813 (-)NCBI
RefSeq Acc Id: XM_054320085   ⟹   XP_054176060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBI
RefSeq Acc Id: XM_054320086   ⟹   XP_054176061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBI
RefSeq Acc Id: XM_054320087   ⟹   XP_054176062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBI
RefSeq Acc Id: XM_054320088   ⟹   XP_054176063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBI
RefSeq Acc Id: XM_054320089   ⟹   XP_054176064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBI
RefSeq Acc Id: XM_054320090   ⟹   XP_054176065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBI
RefSeq Acc Id: XM_054320091   ⟹   XP_054176066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBI
RefSeq Acc Id: XM_054320092   ⟹   XP_054176067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01938,549,106 - 38,554,612 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001034965   ⟸   NM_001039876
- Peptide Label: isoform 1
- UniProtKB: A8MYE3 (UniProtKB/Swiss-Prot),   A8MRS0 (UniProtKB/Swiss-Prot),   Q7Z7L3 (UniProtKB/Swiss-Prot),   Q8N205 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001284664   ⟸   NM_001297735
- Peptide Label: isoform 2
- UniProtKB: Q8N205 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000425550   ⟸   ENST00000503121
RefSeq Acc Id: ENSP00000422716   ⟸   ENST00000490730
RefSeq Acc Id: ENSP00000316130   ⟸   ENST00000324444
RefSeq Acc Id: ENSP00000343152   ⟸   ENST00000340477
RefSeq Acc Id: ENSP00000380572   ⟸   ENST00000397428
RefSeq Acc Id: XP_047294306   ⟸   XM_047438350
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047294303   ⟸   XM_047438347
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047294301   ⟸   XM_047438345
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047294307   ⟸   XM_047438351
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047294300   ⟸   XM_047438344
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047294305   ⟸   XM_047438349
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047294302   ⟸   XM_047438346
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047294304   ⟸   XM_047438348
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054176066   ⟸   XM_054320091
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054176063   ⟸   XM_054320088
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054176061   ⟸   XM_054320086
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054176067   ⟸   XM_054320092
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054176060   ⟸   XM_054320085
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054176065   ⟸   XM_054320090
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054176062   ⟸   XM_054320087
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054176064   ⟸   XM_054320089
- Peptide Label: isoform X5
Protein Domains
KASH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N205-F1-model_v2 AlphaFold Q8N205 1-404 view protein structure

Promoters
RGD ID:7239625
Promoter ID:EPDNEW_H25558
Type:initiation region
Name:SYNE4_1
Description:spectrin repeat containing nuclear envelope family member 4
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
GRCh381936,008,767 - 36,008,827EPDNEW
RGD ID:6795233
Promoter ID:HG_KWN:29703
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000109525,   OTTHUMT00000280530,   UC002OCR.1,   UC002OCS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361941,191,981 - 41,192,481 (-)MPROMDB
RGD ID:6795176
Promoter ID:HG_KWN:29705
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032878,   OTTHUMT00000109528,   OTTHUMT00000109532,   OTTHUMT00000280529,   OTTHUMT00000280532,   OTTHUMT00000309007,   OTTHUMT00000309008,   OTTHUMT00000309009,   OTTHUMT00000309010,   OTTHUMT00000309012,   OTTHUMT00000309013,   OTTHUMT00000309014,   OTTHUMT00000309015,   OTTHUMT00000309016,   OTTHUMT00000309017,   UC002OCT.2,   UC002OCW.1,   UC002OCX.1,   UC002OCY.2,   UC010EEO.1,   UC010EEP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361941,196,181 - 41,197,362 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26703 AgrOrtholog
COSMIC SYNE4 COSMIC
Ensembl Genes ENSG00000181392 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000324444 ENTREZGENE
  ENST00000324444.9 UniProtKB/Swiss-Prot
  ENST00000340477 ENTREZGENE
  ENST00000340477.9 UniProtKB/Swiss-Prot
  ENST00000397428.8 UniProtKB/TrEMBL
  ENST00000490730 ENTREZGENE
  ENST00000490730.1 UniProtKB/TrEMBL
  ENST00000503121.5 UniProtKB/TrEMBL
GTEx ENSG00000181392 GTEx
HGNC ID HGNC:26703 ENTREZGENE
Human Proteome Map SYNE4 Human Proteome Map
InterPro KASH UniProtKB/Swiss-Prot
  SYNE4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:163183 UniProtKB/Swiss-Prot
NCBI Gene 163183 ENTREZGENE
OMIM 615535 OMIM
PANTHER NESPRIN-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam KASH UniProtKB/Swiss-Prot
PharmGKB PA145149542 PharmGKB
PROSITE KASH UniProtKB/Swiss-Prot
SMART KASH UniProtKB/Swiss-Prot
UniProt A8MRS0 ENTREZGENE
  A8MYE3 ENTREZGENE
  D6RAE3_HUMAN UniProtKB/TrEMBL
  H0Y9Z1_HUMAN UniProtKB/TrEMBL
  H9KVA3_HUMAN UniProtKB/TrEMBL
  Q7Z7L3 ENTREZGENE
  Q8N205 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MRS0 UniProtKB/Swiss-Prot
  A8MYE3 UniProtKB/Swiss-Prot
  Q7Z7L3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 SYNE4  spectrin repeat containing nuclear envelope family member 4    spectrin repeat containing, nuclear envelope family member 4  Symbol and/or name change 5135510 APPROVED
2012-06-05 SYNE4  spectrin repeat containing, nuclear envelope family member 4  C19orf46  chromosome 19 open reading frame 46  Symbol and/or name change 5135510 APPROVED