MSANTD1 (Myb/SANT DNA binding domain containing 1) - Rat Genome Database

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Gene: MSANTD1 (Myb/SANT DNA binding domain containing 1) Homo sapiens
Analyze
Symbol: MSANTD1
Name: Myb/SANT DNA binding domain containing 1
RGD ID: 1604952
HGNC Page HGNC:33741
Description: Predicted to be involved in positive regulation of DNA-templated transcription. Predicted to be active in nuclear body.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C4orf44; hypothetical protein LOC345222; Myb/SANT-like DNA-binding domain containing 1; myb/SANT-like DNA-binding domain-containing protein 1; uncharacterized protein C4orf44; uncharacterized protein MSANTD1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3843,244,273 - 3,256,613 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl43,244,369 - 3,271,738 (+)EnsemblGRCh38hg38GRCh38
GRCh3743,246,096 - 3,258,340 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3643,220,565 - 3,235,638 (+)NCBINCBI36Build 36hg18NCBI36
Celera43,162,291 - 3,169,866 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef43,189,248 - 3,196,823 (+)NCBIHuRef
CHM1_143,248,522 - 3,256,097 (+)NCBICHM1_1
T2T-CHM13v2.043,243,031 - 3,255,371 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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
nuclear body  (IBA)

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:8889548   PMID:12477932   PMID:21873635   PMID:36042349  


Genomics

Comparative Map Data
MSANTD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3843,244,273 - 3,256,613 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl43,244,369 - 3,271,738 (+)EnsemblGRCh38hg38GRCh38
GRCh3743,246,096 - 3,258,340 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3643,220,565 - 3,235,638 (+)NCBINCBI36Build 36hg18NCBI36
Celera43,162,291 - 3,169,866 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef43,189,248 - 3,196,823 (+)NCBIHuRef
CHM1_143,248,522 - 3,256,097 (+)NCBICHM1_1
T2T-CHM13v2.043,243,031 - 3,255,371 (+)NCBIT2T-CHM13v2.0
Msantd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39535,071,581 - 35,084,333 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl535,065,356 - 35,081,183 (+)EnsemblGRCm39 Ensembl
GRCm38534,914,593 - 34,926,989 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl534,908,012 - 34,923,839 (+)EnsemblGRCm38mm10GRCm38
MGSCv37535,258,564 - 35,266,488 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36535,232,772 - 35,240,696 (+)NCBIMGSCv36mm8
Celera532,389,812 - 32,397,737 (+)NCBICelera
Cytogenetic Map5B2NCBI
cM Map517.94NCBI
Msantd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81480,059,985 - 80,070,336 (-)NCBIGRCr8
mRatBN7.21475,832,368 - 75,845,687 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1475,835,380 - 75,844,183 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1480,288,354 - 80,294,546 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01481,529,009 - 81,535,201 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01477,974,245 - 77,980,437 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01481,091,675 - 81,105,065 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1481,090,858 - 81,100,803 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01481,780,150 - 81,793,570 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41481,476,972 - 81,483,164 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1474,761,454 - 74,767,646 (-)NCBICelera
Cytogenetic Map14q21NCBI
Msantd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555142,037,891 - 2,053,746 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555142,037,891 - 2,053,746 (+)NCBIChiLan1.0ChiLan1.0
MSANTD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v233,587,575 - 3,615,269 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan143,520,980 - 3,548,660 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v043,393,646 - 3,408,820 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.143,292,754 - 3,307,786 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl43,290,354 - 3,305,139 (+)Ensemblpanpan1.1panPan2
MSANTD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1361,058,993 - 61,076,816 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl361,064,335 - 61,075,072 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha363,642,759 - 63,665,797 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0361,534,630 - 61,557,671 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl361,536,790 - 61,550,600 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1361,026,239 - 61,049,273 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0361,230,547 - 61,253,592 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0361,596,177 - 61,613,334 (-)NCBIUU_Cfam_GSD_1.0
Msantd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528566,730,271 - 66,741,262 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647720,431,861 - 20,440,848 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647720,431,866 - 20,438,330 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSANTD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl81,938,397 - 1,947,985 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.181,934,960 - 1,944,754 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.281,590,769 - 1,596,940 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MSANTD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12745,480,897 - 45,490,192 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2745,480,545 - 45,491,188 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660511,839,654 - 1,852,085 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Msantd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475524,590,334 - 24,597,869 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475524,590,378 - 24,602,806 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MSANTD1
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3 copy number gain See cases [RCV000138129] Chr4:2019774..3881330 [GRCh38]
Chr4:2021501..3883057 [GRCh37]
Chr4:1991299..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1 copy number loss See cases [RCV000141940] Chr4:1964539..5912172 [GRCh38]
Chr4:1966266..5913899 [GRCh37]
Chr4:1936064..5964800 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_001042690.2(MSANTD1):c.831C>A (p.Ser277Arg) single nucleotide variant not specified [RCV004295755] Chr4:3255959 [GRCh38]
Chr4:3257686 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_001042690.2(MSANTD1):c.542G>A (p.Arg181His) single nucleotide variant not specified [RCV004291713] Chr4:3253428 [GRCh38]
Chr4:3255155 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.88G>A (p.Gly30Ser) single nucleotide variant not specified [RCV004291704] Chr4:3249310 [GRCh38]
Chr4:3251037 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.651G>T (p.Lys217Asn) single nucleotide variant not specified [RCV004293933] Chr4:3255779 [GRCh38]
Chr4:3257506 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1 copy number loss not provided [RCV000682370] Chr4:2364201..5447465 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:2730654-3265710)x3 copy number gain not provided [RCV000682371] Chr4:2730654..3265710 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_001042690.2(MSANTD1):c.736C>T (p.Arg246Cys) single nucleotide variant not specified [RCV004300294] Chr4:3255864 [GRCh38]
Chr4:3257591 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:3035630-3515998)x3 copy number gain not provided [RCV000846194] Chr4:3035630..3515998 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001042690.2(MSANTD1):c.535G>A (p.Glu179Lys) single nucleotide variant not specified [RCV004313549] Chr4:3253421 [GRCh38]
Chr4:3255148 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516) copy number loss microdeletion 4p16.3p16.1 [RCV001255691] Chr4:2909440..6871516 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1 copy number loss not provided [RCV001258633] Chr4:1941633..3879802 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_2200251)_(5710240_?)del deletion Ellis-van Creveld syndrome [RCV001386270] Chr4:2200251..5710240 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:2930651-3362806)x3 copy number gain not provided [RCV001829170] Chr4:2930651..3362806 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(3495228_?)del deletion Fibrous dysplasia of jaw [RCV001943824] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_2822345)_(3495228_?)dup duplication not provided [RCV001877626] Chr4:2822345..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(3495228_?)dup duplication Fibrous dysplasia of jaw [RCV003113187] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
Single allele deletion not provided [RCV002227826] Chr4:3101924..7588850 [GRCh38]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001042690.2(MSANTD1):c.652A>C (p.Lys218Gln) single nucleotide variant not specified [RCV004089602] Chr4:3255780 [GRCh38]
Chr4:3257507 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.20C>A (p.Pro7Gln) single nucleotide variant not specified [RCV004161969] Chr4:3249242 [GRCh38]
Chr4:3250969 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.410A>G (p.Glu137Gly) single nucleotide variant not specified [RCV004142656] Chr4:3253296 [GRCh38]
Chr4:3255023 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.16G>A (p.Gly6Arg) single nucleotide variant not specified [RCV004180807] Chr4:3249238 [GRCh38]
Chr4:3250965 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001042690.2(MSANTD1):c.44C>G (p.Ser15Cys) single nucleotide variant not specified [RCV004330818] Chr4:3249266 [GRCh38]
Chr4:3250993 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.38C>T (p.Ala13Val) single nucleotide variant not specified [RCV004263815] Chr4:3249260 [GRCh38]
Chr4:3250987 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.547G>A (p.Glu183Lys) single nucleotide variant not specified [RCV004329662] Chr4:3253433 [GRCh38]
Chr4:3255160 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_001042690.2(MSANTD1):c.57C>T (p.Gly19=) single nucleotide variant not specified [RCV004344007] Chr4:3249279 [GRCh38]
Chr4:3251006 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3510024)x1 copy number loss not specified [RCV003986499] Chr4:68345..3510024 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001042690.2(MSANTD1):c.7C>T (p.Arg3Cys) single nucleotide variant not specified [RCV004503339] Chr4:3249229 [GRCh38]
Chr4:3250956 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.97G>A (p.Val33Met) single nucleotide variant not specified [RCV004503348] Chr4:3249319 [GRCh38]
Chr4:3251046 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.475T>C (p.Ser159Pro) single nucleotide variant not specified [RCV004503300] Chr4:3253361 [GRCh38]
Chr4:3255088 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.524A>G (p.Gln175Arg) single nucleotide variant not specified [RCV004503304] Chr4:3253410 [GRCh38]
Chr4:3255137 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.541C>T (p.Arg181Cys) single nucleotide variant not specified [RCV004503310] Chr4:3253427 [GRCh38]
Chr4:3255154 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.549G>T (p.Glu183Asp) single nucleotide variant not specified [RCV004503319] Chr4:3253435 [GRCh38]
Chr4:3255162 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001042690.2(MSANTD1):c.265C>T (p.Arg89Cys) single nucleotide variant not specified [RCV004503289] Chr4:3249487 [GRCh38]
Chr4:3251214 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_2357152)_(15176083_?)del deletion not provided [RCV004580846] Chr4:2357152..15176083 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NC_000004.11:g.(?_2822345)_(3495228_?)del deletion Fetal akinesia deformation sequence 1 [RCV004580768] Chr4:2822345..3495228 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_1795662)_(3495228_?)dup duplication not provided [RCV004580808] Chr4:1795662..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795662)_(3495228_?)del deletion not provided [RCV004580832] Chr4:1795662..3495228 [GRCh37]
Chr4:4p16.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2725
Count of miRNA genes:1012
Interacting mature miRNAs:1231
Transcripts:ENST00000438480, ENST00000505599, ENST00000507492, ENST00000510580
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
407339943GWAS988919_Hsex hormone-binding globulin measurement QTL GWAS988919 (human)3e-16sex hormone-binding globulin measurement432565943256595Human
406997059GWAS646035_Heducational attainment QTL GWAS646035 (human)4e-38educational attainment432514563251457Human
406943880GWAS592856_Halcohol consumption measurement QTL GWAS592856 (human)1e-08alcohol consumption measurementethanol drink intake rate (CMO:0001407)432481013248102Human
407174670GWAS823646_Hserum albumin measurement QTL GWAS823646 (human)1e-10serum albumin measurementserum albumin level (CMO:0000550)432565943256595Human
406946284GWAS595260_Hhepatocyte growth factor activator measurement QTL GWAS595260 (human)2e-16hepatocyte growth factor activator measurement432565943256595Human
407056429GWAS705405_Hhousehold income QTL GWAS705405 (human)6e-12household income432514563251457Human
407107539GWAS756515_Hprotein measurement QTL GWAS756515 (human)2e-09protein measurement432453963245397Human
407103827GWAS752803_Hcognitive function measurement QTL GWAS752803 (human)1e-09cognitive function measurement432504033250404Human
407252022GWAS900998_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS900998 (human)1e-08schizophrenia, intelligence, self reported educational attainment432514563251457Human
407332854GWAS981830_HIGF-1 measurement QTL GWAS981830 (human)2e-10IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)432565943256595Human
406981296GWAS630272_Halcohol consumption measurement QTL GWAS630272 (human)2e-09alcohol consumption measurementethanol drink intake rate (CMO:0001407)432481013248102Human
406947958GWAS596934_Halcohol use disorder measurement, alcohol consumption measurement QTL GWAS596934 (human)5e-08alcohol use disorder measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)432481013248102Human
406954422GWAS603398_Hself reported educational attainment QTL GWAS603398 (human)4e-10self reported educational attainment432481013248102Human
407105403GWAS754379_Hself reported educational attainment QTL GWAS754379 (human)1e-16self reported educational attainment432504033250404Human
407198207GWAS847183_HAlzheimer disease, educational attainment QTL GWAS847183 (human)0.0000006Alzheimer disease, educational attainment432514563251457Human
407107256GWAS756232_Hplatelet count QTL GWAS756232 (human)2e-09platelet quantity (VT:0003179)platelet count (CMO:0000029)432514563251457Human
406969754GWAS618730_Hparental longevity QTL GWAS618730 (human)0.0000006parental longevity432550783255079Human
407053439GWAS702415_Hhousehold income QTL GWAS702415 (human)1e-08household income432504033250404Human
406969660GWAS618636_Hparental longevity QTL GWAS618636 (human)0.000004parental longevity432452803245281Human


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2405 2787 2236 4925 1691 2281 3 593 1876 434 2230 7085 6368 49 3729 773 1721 1582 171 1

Sequence


Ensembl Acc Id: ENST00000438480   ⟹   ENSP00000411584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl43,249,159 - 3,256,613 (+)Ensembl
Ensembl Acc Id: ENST00000505599   ⟹   ENSP00000425405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl43,249,040 - 3,271,738 (+)Ensembl
Ensembl Acc Id: ENST00000507492   ⟹   ENSP00000423547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl43,244,369 - 3,256,613 (+)Ensembl
Ensembl Acc Id: ENST00000510580   ⟹   ENSP00000420966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl43,249,159 - 3,262,541 (+)Ensembl
RefSeq Acc Id: NM_001042690   ⟹   NP_001036155
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3843,249,159 - 3,256,613 (+)NCBI
GRCh3743,250,766 - 3,273,465 (+)NCBI
Build 3643,220,565 - 3,228,140 (+)NCBI Archive
Celera43,162,291 - 3,169,866 (+)RGD
HuRef43,189,248 - 3,196,823 (+)ENTREZGENE
CHM1_143,248,522 - 3,256,097 (+)NCBI
T2T-CHM13v2.043,247,917 - 3,255,371 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330620   ⟹   NP_001317549
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3843,244,369 - 3,256,613 (+)NCBI
T2T-CHM13v2.043,243,127 - 3,255,371 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513467   ⟹   XP_011511769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3843,249,159 - 3,256,613 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047415655   ⟹   XP_047271611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3843,244,273 - 3,256,613 (+)NCBI
RefSeq Acc Id: XM_054349950   ⟹   XP_054205925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.043,247,917 - 3,255,371 (+)NCBI
RefSeq Acc Id: XM_054349951   ⟹   XP_054205926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.043,243,031 - 3,255,371 (+)NCBI
RefSeq Acc Id: NP_001036155   ⟸   NM_001042690
- Peptide Label: isoform 1
- UniProtKB: C9J6V0 (UniProtKB/Swiss-Prot),   Q6ZTZ1 (UniProtKB/Swiss-Prot),   D6RDG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511769   ⟸   XM_011513467
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001317549   ⟸   NM_001330620
- Peptide Label: isoform 2
- UniProtKB: D6R9L8 (UniProtKB/TrEMBL),   D6RDG6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000411584   ⟸   ENST00000438480
Ensembl Acc Id: ENSP00000425405   ⟸   ENST00000505599
Ensembl Acc Id: ENSP00000423547   ⟸   ENST00000507492
Ensembl Acc Id: ENSP00000420966   ⟸   ENST00000510580
RefSeq Acc Id: XP_047271611   ⟸   XM_047415655
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054205926   ⟸   XM_054349951
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054205925   ⟸   XM_054349950
- Peptide Label: isoform X1
Protein Domains
Myb-like   Myb/SANT-like DNA-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZTZ1-F1-model_v2 AlphaFold Q6ZTZ1 1-278 view protein structure

Promoters
RGD ID:6802118
Promoter ID:HG_KWN:47732
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000341755,   NM_001042690,   UC003GGT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3643,219,896 - 3,220,797 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33741 AgrOrtholog
COSMIC MSANTD1 COSMIC
Ensembl Genes ENSG00000188981 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000438480 ENTREZGENE
  ENST00000438480.7 UniProtKB/Swiss-Prot
  ENST00000505599.5 UniProtKB/TrEMBL
  ENST00000507492 ENTREZGENE
  ENST00000507492.5 UniProtKB/TrEMBL
  ENST00000510580.1 UniProtKB/TrEMBL
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000188981 GTEx
HGNC ID HGNC:33741 ENTREZGENE
Human Proteome Map MSANTD1 Human Proteome Map
InterPro Myb/SANT-like_DNA-bd_dom_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myb_DNA-bind_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:345222 UniProtKB/Swiss-Prot
NCBI Gene 345222 ENTREZGENE
PANTHER MYB/SANT-LIKE DNA-BINDING DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22666 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Myb_DNA-bind_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162379942 PharmGKB
UniProt C9J6V0 ENTREZGENE
  D6R9L8 ENTREZGENE, UniProtKB/TrEMBL
  D6RD98_HUMAN UniProtKB/TrEMBL
  D6RDG6 ENTREZGENE, UniProtKB/TrEMBL
  MSD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary C9J6V0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 MSANTD1  Myb/SANT DNA binding domain containing 1    Myb/SANT-like DNA-binding domain containing 1  Symbol and/or name change 5135510 APPROVED
2012-03-06 MSANTD1  Myb/SANT-like DNA-binding domain containing 1  C4orf44  chromosome 4 open reading frame 44  Symbol and/or name change 5135510 APPROVED