SGIP1 (SH3GL interacting endocytic adaptor 1) - Rat Genome Database

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Gene: SGIP1 (SH3GL interacting endocytic adaptor 1) Homo sapiens
Analyze
Symbol: SGIP1
Name: SH3GL interacting endocytic adaptor 1
RGD ID: 1346308
HGNC Page HGNC:25412
Description: Enables SH3 domain binding activity. Predicted to be involved in positive regulation of feeding behavior; positive regulation of receptor-mediated endocytosis; and response to dietary excess. Predicted to act upstream of or within plasma membrane tubulation. Located in clathrin-coated pit; cytoplasm; and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp686A16142; DKFZp761D221; endophilin-3-interacting protein; FLJ33378; FLJ43054; SH3 domain GRB2 like endophilin interacting protein 1; SH3-containing GRB2-like protein 3-interacting protein 1; SH3-domain GRB2-like (endophilin) interacting protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38166,533,361 - 66,751,139 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl166,533,267 - 66,751,139 (+)EnsemblGRCh38hg38GRCh38
GRCh37166,999,044 - 67,216,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36166,772,413 - 66,983,356 (+)NCBINCBI36Build 36hg18NCBI36
Celera165,290,173 - 65,500,737 (+)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef165,109,074 - 65,319,047 (+)NCBIHuRef
CHM1_1167,115,379 - 67,326,126 (+)NCBICHM1_1
T2T-CHM13v2.0166,410,946 - 66,628,673 (+)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

Cellular Component

Molecular Function

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
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:14702039   PMID:15489334   PMID:15489336   PMID:15919751   PMID:16344560   PMID:16381901   PMID:16710414   PMID:17626015   PMID:17975119  
PMID:19023099   PMID:19713939   PMID:20379614   PMID:20421487   PMID:20946875   PMID:21244100   PMID:21317682   PMID:21407171   PMID:21873635   PMID:23307926   PMID:23509613   PMID:26822536  
PMID:27237791   PMID:28030933   PMID:28734904   PMID:29791485   PMID:29987050   PMID:30021884   PMID:30236986   PMID:33118832   PMID:33961781  


Genomics

Comparative Map Data
SGIP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38166,533,361 - 66,751,139 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl166,533,267 - 66,751,139 (+)EnsemblGRCh38hg38GRCh38
GRCh37166,999,044 - 67,216,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36166,772,413 - 66,983,356 (+)NCBINCBI36Build 36hg18NCBI36
Celera165,290,173 - 65,500,737 (+)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef165,109,074 - 65,319,047 (+)NCBIHuRef
CHM1_1167,115,379 - 67,326,126 (+)NCBICHM1_1
T2T-CHM13v2.0166,410,946 - 66,628,673 (+)NCBIT2T-CHM13v2.0
Sgip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394102,616,351 - 102,834,623 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4102,598,494 - 102,830,825 (+)EnsemblGRCm39 Ensembl
GRCm384102,741,302 - 102,977,426 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4102,741,297 - 102,973,628 (+)EnsemblGRCm38mm10GRCm38
MGSCv374102,432,968 - 102,643,782 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364102,258,295 - 102,469,109 (+)NCBIMGSCv36mm8
Celera4101,125,168 - 101,335,919 (+)NCBICelera
Cytogenetic Map4C6NCBI
cM Map447.09NCBI
Sgip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85122,755,216 - 122,963,677 (+)NCBIGRCr8
mRatBN7.25117,536,752 - 117,734,593 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5117,537,746 - 117,734,575 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5120,170,652 - 120,367,633 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05121,895,990 - 122,092,972 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05121,947,262 - 122,144,254 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05122,300,415 - 122,498,478 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5122,390,522 - 122,491,203 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05126,167,768 - 126,365,804 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45123,696,703 - 123,897,989 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5116,112,672 - 116,308,424 (+)NCBICelera
Cytogenetic Map5q33NCBI
Sgip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542324,157,368 - 24,353,206 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542324,155,401 - 24,353,166 (-)NCBIChiLan1.0ChiLan1.0
SGIP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21160,115,885 - 160,327,220 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11159,270,035 - 159,486,941 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0165,782,856 - 65,999,721 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1167,668,456 - 67,885,094 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl167,669,222 - 67,877,073 (+)Ensemblpanpan1.1panPan2
SGIP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1543,741,507 - 43,944,289 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl543,746,506 - 43,943,414 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha543,865,785 - 44,067,468 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0543,927,271 - 44,132,033 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl543,931,380 - 44,131,599 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1543,893,104 - 44,097,647 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0543,839,137 - 44,043,106 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0544,079,263 - 44,281,189 (-)NCBIUU_Cfam_GSD_1.0
Sgip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505879,473,546 - 79,676,652 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365914,817,184 - 5,016,140 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365914,815,222 - 5,015,250 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SGIP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6145,822,269 - 146,052,526 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16145,815,658 - 146,051,621 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SGIP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12066,349,378 - 66,565,216 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2066,357,440 - 66,473,483 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603351,029,998 - 51,245,493 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sgip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474228,247,127 - 28,439,482 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474228,245,140 - 28,439,705 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SGIP1
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 copy number loss See cases [RCV000050703] Chr1:60473800..70944955 [GRCh38]
Chr1:60939472..71410638 [GRCh37]
Chr1:60712060..71183226 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1
pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 copy number loss See cases [RCV000053841] Chr1:57350574..71325924 [GRCh38]
Chr1:57816246..71791607 [GRCh37]
Chr1:57588834..71564195 [NCBI36]
Chr1:1p32.2-31.1
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 copy number loss See cases [RCV000133710] Chr1:59760856..71578052 [GRCh38]
Chr1:60226528..72043735 [GRCh37]
Chr1:59999116..71816323 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 copy number loss See cases [RCV000134142] Chr1:58819605..69107108 [GRCh38]
Chr1:59285277..69572791 [GRCh37]
Chr1:59057865..69345379 [NCBI36]
Chr1:1p32.1-31.2
pathogenic
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3
pathogenic
GRCh38/hg38 1p31.3(chr1:66616829-66948603)x1 copy number loss See cases [RCV000138209] Chr1:66616829..66948603 [GRCh38]
Chr1:67082512..67414286 [GRCh37]
Chr1:66855100..67186874 [NCBI36]
Chr1:1p31.3
uncertain significance
GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1 copy number loss See cases [RCV000140906] Chr1:64944525..67592003 [GRCh38]
Chr1:65410208..68057686 [GRCh37]
Chr1:65182796..67830274 [NCBI36]
Chr1:1p31.3
likely pathogenic|uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3
likely pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 copy number gain See cases [RCV000142452] Chr1:64072618..75518432 [GRCh38]
Chr1:64538290..75984117 [GRCh37]
Chr1:64310878..75756705 [NCBI36]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3(chr1:61785602-67430956)x3 copy number gain See cases [RCV000446769] Chr1:61785602..67430956 [GRCh37]
Chr1:1p31.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3
pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_032291.4(SGIP1):c.1069C>T (p.Pro357Ser) single nucleotide variant Inborn genetic diseases [RCV003291710] Chr1:66682123 [GRCh38]
Chr1:67147806 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.1187C>A (p.Thr396Lys) single nucleotide variant Inborn genetic diseases [RCV003291209] Chr1:66682241 [GRCh38]
Chr1:67147924 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.1919C>G (p.Ala640Gly) single nucleotide variant Inborn genetic diseases [RCV003272184] Chr1:66733768 [GRCh38]
Chr1:67199451 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1 copy number loss not provided [RCV000684581] Chr1:64848307..67436595 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3 copy number gain not provided [RCV000684577] Chr1:62434799..71656180 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_032291.4(SGIP1):c.1290G>A (p.Ser430=) single nucleotide variant not provided [RCV000974159] Chr1:66682344 [GRCh38]
Chr1:67148027 [GRCh37]
Chr1:1p31.3
benign
Single allele deletion Intellectual disability, severe [RCV000824954] Chr1:59922631..72058653 [GRCh37]
Chr1:1p32.1-31.1
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2
not provided
GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1 copy number loss not provided [RCV000847457] Chr1:66868168..77106425 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
NC_000001.10:g.(?_65299551)_(67861772_?)del deletion not provided [RCV003107630] Chr1:65299551..67861772 [GRCh37]
Chr1:1p31.3
pathogenic
NM_032291.4(SGIP1):c.46C>T (p.Arg16Trp) single nucleotide variant Inborn genetic diseases [RCV003274437] Chr1:66625882 [GRCh38]
Chr1:67091565 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543) copy number gain not specified [RCV002053380] Chr1:65125111..69186543 [GRCh37]
Chr1:1p31.3-31.2
uncertain significance
NC_000001.10:g.(?_61548464)_(67861772_?)del deletion not provided [RCV003116397] Chr1:61548464..67861772 [GRCh37]
Chr1:1p31.3
pathogenic
GRCh37/hg19 1p31.3(chr1:66815031-67319280)x3 copy number gain not provided [RCV002474717] Chr1:66815031..67319280 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.1448G>A (p.Arg483Lys) single nucleotide variant Inborn genetic diseases [RCV002859188] Chr1:66690194 [GRCh38]
Chr1:67155877 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.892G>T (p.Val298Leu) single nucleotide variant Inborn genetic diseases [RCV002859226] Chr1:66681946 [GRCh38]
Chr1:67147629 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.2266A>T (p.Ile756Phe) single nucleotide variant Inborn genetic diseases [RCV002970484] Chr1:66740689 [GRCh38]
Chr1:67206372 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.40G>A (p.Gly14Arg) single nucleotide variant Inborn genetic diseases [RCV002777890] Chr1:66625876 [GRCh38]
Chr1:67091559 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.724C>T (p.Pro242Ser) single nucleotide variant Inborn genetic diseases [RCV003000997] Chr1:66677081 [GRCh38]
Chr1:67142764 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.4A>G (p.Met2Val) single nucleotide variant Inborn genetic diseases [RCV002798491] Chr1:66534362 [GRCh38]
Chr1:67000045 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.911T>C (p.Val304Ala) single nucleotide variant Inborn genetic diseases [RCV002888980] Chr1:66681965 [GRCh38]
Chr1:67147648 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.1545G>C (p.Leu515Phe) single nucleotide variant Inborn genetic diseases [RCV002744285] Chr1:66690291 [GRCh38]
Chr1:67155974 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.1115C>G (p.Ser372Trp) single nucleotide variant Inborn genetic diseases [RCV002767942] Chr1:66682169 [GRCh38]
Chr1:67147852 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.476G>A (p.Arg159His) single nucleotide variant Inborn genetic diseases [RCV002699677] Chr1:66667534 [GRCh38]
Chr1:67133217 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.811C>T (p.Pro271Ser) single nucleotide variant Inborn genetic diseases [RCV002697139] Chr1:66679749 [GRCh38]
Chr1:67145432 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.41G>C (p.Gly14Ala) single nucleotide variant Inborn genetic diseases [RCV002673342] Chr1:66625877 [GRCh38]
Chr1:67091560 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.479G>T (p.Ser160Ile) single nucleotide variant Inborn genetic diseases [RCV002718367] Chr1:66667537 [GRCh38]
Chr1:67133220 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.1199C>A (p.Pro400His) single nucleotide variant Inborn genetic diseases [RCV003010840] Chr1:66682253 [GRCh38]
Chr1:67147936 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.1003T>C (p.Ser335Pro) single nucleotide variant Inborn genetic diseases [RCV002855118] Chr1:66682057 [GRCh38]
Chr1:67147740 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.1699A>T (p.Thr567Ser) single nucleotide variant Inborn genetic diseases [RCV002813306] Chr1:66719362 [GRCh38]
Chr1:67185045 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.1602C>A (p.Asp534Glu) single nucleotide variant Inborn genetic diseases [RCV002679659] Chr1:66695465 [GRCh38]
Chr1:67161148 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.1088C>T (p.Pro363Leu) single nucleotide variant Inborn genetic diseases [RCV003206170] Chr1:66682142 [GRCh38]
Chr1:67147825 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.115G>A (p.Glu39Lys) single nucleotide variant Inborn genetic diseases [RCV003345444] Chr1:66635959 [GRCh38]
Chr1:67101642 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.2110C>G (p.Arg704Gly) single nucleotide variant Inborn genetic diseases [RCV003374113] Chr1:66739413 [GRCh38]
Chr1:67205096 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.952A>G (p.Thr318Ala) single nucleotide variant Inborn genetic diseases [RCV003371017] Chr1:66682006 [GRCh38]
Chr1:67147689 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.389T>C (p.Leu130Pro) single nucleotide variant Inborn genetic diseases [RCV003372269] Chr1:66643649 [GRCh38]
Chr1:67109332 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.670T>G (p.Trp224Gly) single nucleotide variant Inborn genetic diseases [RCV003376999] Chr1:66677027 [GRCh38]
Chr1:67142710 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_032291.4(SGIP1):c.733A>G (p.Thr245Ala) single nucleotide variant Inborn genetic diseases [RCV003367146] Chr1:66677090 [GRCh38]
Chr1:67142773 [GRCh37]
Chr1:1p31.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5802
Count of miRNA genes:1115
Interacting mature miRNAs:1386
Transcripts:ENST00000237247, ENST00000320161, ENST00000371035, ENST00000371036, ENST00000371037, ENST00000371039, ENST00000424320, ENST00000435165, ENST00000468286, ENST00000468570, ENST00000480548, ENST00000483060, ENST00000484988, ENST00000487507, ENST00000493564, ENST00000497055
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
D1S198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,011,167 - 67,011,413UniSTSGRCh37
GRCh37167,011,185 - 67,011,492UniSTSGRCh37
Build 36166,783,773 - 66,784,080RGDNCBI36
Celera165,301,530 - 65,301,843RGD
Celera165,301,512 - 65,301,764UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef165,120,413 - 65,120,667UniSTS
HuRef165,120,431 - 65,120,746UniSTS
Marshfield Genetic Map199.3RGD
Genethon Genetic Map1102.0UniSTS
TNG Radiation Hybrid Map137727.0UniSTS
deCODE Assembly Map193.04UniSTS
GeneMap99-GB4 RH Map1178.69UniSTS
Whitehead-RH Map1207.3UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1464.8UniSTS
AL009405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,030,634 - 67,030,783UniSTSGRCh37
Build 36166,803,222 - 66,803,371RGDNCBI36
Celera165,320,973 - 65,321,122RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,139,876 - 65,140,025UniSTS
SHGC-30800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,135,525 - 67,135,654UniSTSGRCh37
Build 36166,908,113 - 66,908,242RGDNCBI36
Celera165,425,849 - 65,425,978RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,245,000 - 65,245,129UniSTS
GeneMap99-GB4 RH Map1143.35UniSTS
GeneMap99-GB4 RH Map1180.43UniSTS
Whitehead-RH Map1207.3UniSTS
D1S3585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,209,126 - 67,209,263UniSTSGRCh37
Build 36166,981,714 - 66,981,851RGDNCBI36
Celera165,499,095 - 65,499,232RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,317,405 - 65,317,542UniSTS
AL033642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,175,184 - 67,175,319UniSTSGRCh37
Build 36166,947,772 - 66,947,907RGDNCBI36
Celera165,465,514 - 65,465,649RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,284,737 - 65,284,872UniSTS
SHGC-58572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,028,360 - 67,028,503UniSTSGRCh37
Build 36166,800,948 - 66,801,091RGDNCBI36
Celera165,318,699 - 65,318,842RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,137,602 - 65,137,745UniSTS
TNG Radiation Hybrid Map137796.0UniSTS
SHGC-79650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,098,969 - 67,099,289UniSTSGRCh37
Build 36166,871,557 - 66,871,877RGDNCBI36
Celera165,389,296 - 65,389,616RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,208,158 - 65,208,478UniSTS
TNG Radiation Hybrid Map137816.0UniSTS
G42182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,210,575 - 67,210,662UniSTSGRCh37
Build 36166,983,163 - 66,983,250RGDNCBI36
Celera165,500,544 - 65,500,631RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,318,854 - 65,318,941UniSTS
RH119584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,012,134 - 67,012,324UniSTSGRCh37
Build 36166,784,722 - 66,784,912RGDNCBI36
Celera165,302,485 - 65,302,675RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,121,388 - 65,121,578UniSTS
TNG Radiation Hybrid Map137770.0UniSTS
RH120417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,071,253 - 67,071,530UniSTSGRCh37
Build 36166,843,841 - 66,844,118RGDNCBI36
Celera165,361,598 - 65,361,875RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,180,468 - 65,180,745UniSTS
TNG Radiation Hybrid Map137800.0UniSTS
SHGC-131180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,160,799 - 67,160,911UniSTSGRCh37
Build 36166,933,387 - 66,933,499RGDNCBI36
Celera165,451,129 - 65,451,241RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,270,352 - 65,270,464UniSTS
G65675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,209,199 - 67,209,594UniSTSGRCh37
Build 36166,981,787 - 66,982,182RGDNCBI36
Celera165,499,168 - 65,499,563RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,317,478 - 65,317,873UniSTS
G65597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,212,369 - 67,212,726UniSTSGRCh37
Build 36166,984,957 - 66,985,314RGDNCBI36
Celera165,502,338 - 65,502,695RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,320,616 - 65,320,973UniSTS
AL009520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,164,895 - 67,165,024UniSTSGRCh37
Build 36166,937,483 - 66,937,612RGDNCBI36
Celera165,455,225 - 65,455,354RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,274,449 - 65,274,578UniSTS
G16077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37166,999,169 - 66,999,333UniSTSGRCh37
Build 36166,771,757 - 66,771,921RGDNCBI36
Celera165,289,517 - 65,289,681RGD
Cytogenetic Map1p31.3UniSTS
HuRef165,108,418 - 65,108,582UniSTS
G54681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37167,160,772 - 67,160,921UniSTSGRCh37
Celera165,451,102 - 65,451,251UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef165,270,325 - 65,270,474UniSTS
D1S198  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p31.3UniSTS
Marshfield Genetic Map199.3UniSTS
Genethon Genetic Map1102.0UniSTS
deCODE Assembly Map193.04UniSTS
GeneMap99-GB4 RH Map1178.69UniSTS
Whitehead-RH Map1207.3UniSTS
Whitehead-YAC Contig Map1 UniSTS


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 66 1089 225 1 3 1 698 71 1165 18 85 351 1 59 637
Low 2116 1091 961 266 246 123 2953 1890 2534 292 1194 1071 145 1 1133 1900 1 1
Below cutoff 145 790 513 334 1145 315 658 215 19 75 114 66 21 12 251 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB210039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW205180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA491011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA724991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA801276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000237247   ⟹   ENSP00000237247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,383 - 66,744,374 (+)Ensembl
RefSeq Acc Id: ENST00000320161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,695,051 - 66,704,509 (+)Ensembl
RefSeq Acc Id: ENST00000371037   ⟹   ENSP00000360076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,153 - 66,751,139 (+)Ensembl
RefSeq Acc Id: ENST00000371039   ⟹   ENSP00000360078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,592 - 66,745,085 (+)Ensembl
RefSeq Acc Id: ENST00000424320   ⟹   ENSP00000410439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,187 - 66,690,457 (+)Ensembl
RefSeq Acc Id: ENST00000435165   ⟹   ENSP00000395525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,575 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000468286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,015 - 66,695,232 (+)Ensembl
RefSeq Acc Id: ENST00000468570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,695,433 - 66,704,757 (+)Ensembl
RefSeq Acc Id: ENST00000480548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,173 - 66,691,971 (+)Ensembl
RefSeq Acc Id: ENST00000483060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,153 - 66,644,012 (+)Ensembl
RefSeq Acc Id: ENST00000484988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,615,939 - 66,626,105 (+)Ensembl
RefSeq Acc Id: ENST00000487507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,682,294 - 66,690,531 (+)Ensembl
RefSeq Acc Id: ENST00000493564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,605 - 66,626,043 (+)Ensembl
RefSeq Acc Id: ENST00000497055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,181 - 66,626,060 (+)Ensembl
RefSeq Acc Id: ENST00000681971   ⟹   ENSP00000507684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,586 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,695,290 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682054   ⟹   ENSP00000508116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,575 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682150   ⟹   ENSP00000507628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682270   ⟹   ENSP00000507298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,590 - 66,695,232 (+)Ensembl
RefSeq Acc Id: ENST00000682293   ⟹   ENSP00000506836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682416   ⟹   ENSP00000507515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,015 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682419   ⟹   ENSP00000508169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682476   ⟹   ENSP00000507853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,590 - 66,690,432 (+)Ensembl
RefSeq Acc Id: ENST00000682519   ⟹   ENSP00000507084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,712,185 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682707   ⟹   ENSP00000506779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,267 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682762   ⟹   ENSP00000507231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,179 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682816   ⟹   ENSP00000507764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,677,511 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682901   ⟹   ENSP00000507264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000682938   ⟹   ENSP00000507426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,743,334 (+)Ensembl
RefSeq Acc Id: ENST00000682981   ⟹   ENSP00000507465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,119 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000683067   ⟹   ENSP00000507132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,213 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000683207   ⟹   ENSP00000507840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,590 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000683257   ⟹   ENSP00000507967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,085 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000683291   ⟹   ENSP00000507400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,575 - 66,691,982 (+)Ensembl
RefSeq Acc Id: ENST00000683311   ⟹   ENSP00000506974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000683499   ⟹   ENSP00000506830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,015 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000683526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,731,688 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000683581   ⟹   ENSP00000507528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000683604   ⟹   ENSP00000508028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000683731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,642,697 - 66,644,000 (+)Ensembl
RefSeq Acc Id: ENST00000683911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,737,567 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000684083   ⟹   ENSP00000506802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,096 - 66,690,523 (+)Ensembl
RefSeq Acc Id: ENST00000684168   ⟹   ENSP00000507495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,590 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000684178   ⟹   ENSP00000507159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,982 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000684369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,694,258 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000684539   ⟹   ENSP00000507311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,575 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000684563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,718,067 - 66,734,053 (+)Ensembl
RefSeq Acc Id: ENST00000684651   ⟹   ENSP00000507629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,161 - 66,743,595 (+)Ensembl
RefSeq Acc Id: ENST00000684664   ⟹   ENSP00000508234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,014 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000684750   ⟹   ENSP00000507164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,534,114 - 66,748,987 (+)Ensembl
RefSeq Acc Id: ENST00000684751   ⟹   ENSP00000507133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl166,533,575 - 66,690,518 (+)Ensembl
RefSeq Acc Id: NM_001308203   ⟹   NP_001295132
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
CHM1_1167,114,806 - 67,332,182 (+)NCBI
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350217   ⟹   NP_001337146
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350218   ⟹   NP_001337147
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376534   ⟹   NP_001363463
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376535   ⟹   NP_001363464
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,361 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,410,946 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376536   ⟹   NP_001363465
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376537   ⟹   NP_001363466
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376538   ⟹   NP_001363467
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376539   ⟹   NP_001363468
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376540   ⟹   NP_001363469
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376541   ⟹   NP_001363470
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376542   ⟹   NP_001363471
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376543   ⟹   NP_001363472
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376544   ⟹   NP_001363473
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376545   ⟹   NP_001363474
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376546   ⟹   NP_001363475
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376547   ⟹   NP_001363476
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376548   ⟹   NP_001363477
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376549   ⟹   NP_001363478
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,361 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,410,946 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376550   ⟹   NP_001363479
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376551   ⟹   NP_001363480
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376552   ⟹   NP_001363481
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376554   ⟹   NP_001363483
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376555   ⟹   NP_001363484
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376556   ⟹   NP_001363485
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,690,530 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,568,392 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376557   ⟹   NP_001363486
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,690,530 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,568,392 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032291   ⟹   NP_115667
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
GRCh37166,999,066 - 67,210,768 (+)NCBI
Build 36166,772,413 - 66,983,356 (+)NCBI Archive
Celera165,290,173 - 65,500,737 (+)RGD
HuRef165,109,074 - 65,319,047 (+)ENTREZGENE
CHM1_1167,115,193 - 67,332,182 (+)NCBI
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271270   ⟹   XP_005271327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
GRCh37166,999,066 - 67,210,768 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710961   ⟹   XP_006711024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710971   ⟹   XP_006711034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710973   ⟹   XP_006711036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542291   ⟹   XP_011540593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542292   ⟹   XP_011540594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002505   ⟹   XP_016857994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002506   ⟹   XP_016857995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002507   ⟹   XP_016857996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002508   ⟹   XP_016857997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002510   ⟹   XP_016857999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002515   ⟹   XP_016858004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002516   ⟹   XP_016858005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002524   ⟹   XP_016858013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002528   ⟹   XP_016858017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002529   ⟹   XP_016858018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432051   ⟹   XP_047288007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
RefSeq Acc Id: XM_047432052   ⟹   XP_047288008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
RefSeq Acc Id: XM_047432053   ⟹   XP_047288009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
RefSeq Acc Id: XM_047432054   ⟹   XP_047288010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
RefSeq Acc Id: XM_047432055   ⟹   XP_047288011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
RefSeq Acc Id: XM_047432056   ⟹   XP_047288012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
RefSeq Acc Id: XM_047432057   ⟹   XP_047288013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
RefSeq Acc Id: XM_047432058   ⟹   XP_047288014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,751,139 (+)NCBI
RefSeq Acc Id: XM_047432059   ⟹   XP_047288015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,361 - 66,751,139 (+)NCBI
RefSeq Acc Id: XM_047432060   ⟹   XP_047288016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,751,139 (+)NCBI
RefSeq Acc Id: XM_047432061   ⟹   XP_047288017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,690,530 (+)NCBI
RefSeq Acc Id: XM_054339137   ⟹   XP_054195112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339138   ⟹   XP_054195113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339139   ⟹   XP_054195114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339140   ⟹   XP_054195115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339141   ⟹   XP_054195116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339142   ⟹   XP_054195117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339143   ⟹   XP_054195118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339144   ⟹   XP_054195119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339145   ⟹   XP_054195120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339146   ⟹   XP_054195121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339147   ⟹   XP_054195122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339148   ⟹   XP_054195123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339149   ⟹   XP_054195124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339150   ⟹   XP_054195125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339151   ⟹   XP_054195126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339152   ⟹   XP_054195127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,054 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339153   ⟹   XP_054195128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339154   ⟹   XP_054195129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339155   ⟹   XP_054195130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,178 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339156   ⟹   XP_054195131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339157   ⟹   XP_054195132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339158   ⟹   XP_054195133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339159   ⟹   XP_054195134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,410,946 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339160   ⟹   XP_054195135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,237 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339161   ⟹   XP_054195136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339162   ⟹   XP_054195137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,055 - 66,628,673 (+)NCBI
RefSeq Acc Id: XM_054339163   ⟹   XP_054195138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,178 - 66,568,392 (+)NCBI
RefSeq Acc Id: XR_007064415
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,729,362 (+)NCBI
RefSeq Acc Id: XR_008486178
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0166,411,738 - 66,607,248 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001295132 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337146 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337147 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363463 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363464 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363465 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363466 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363467 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363468 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363469 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363470 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363471 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363472 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363473 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363474 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363475 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363476 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363477 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363478 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363479 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363480 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363481 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363483 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363484 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363485 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363486 (Get FASTA)   NCBI Sequence Viewer  
  NP_115667 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271327 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711024 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711034 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711036 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540593 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540594 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857994 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857995 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857996 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857997 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857999 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858004 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858005 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858013 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858017 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858018 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288007 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288008 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288009 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288010 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288011 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288012 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288013 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288014 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288015 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288016 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288017 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195112 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195113 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195114 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195115 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195116 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195117 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195118 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195119 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195120 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195121 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195122 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195123 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195124 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195125 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195126 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195128 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195131 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195132 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195133 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195134 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195137 (Get FASTA)   NCBI Sequence Viewer  
  XP_054195138 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH40516 (Get FASTA)   NCBI Sequence Viewer  
  BAC86031 (Get FASTA)   NCBI Sequence Viewer  
  BAE06121 (Get FASTA)   NCBI Sequence Viewer  
  BAG52213 (Get FASTA)   NCBI Sequence Viewer  
  BAH12914 (Get FASTA)   NCBI Sequence Viewer  
  BAH13177 (Get FASTA)   NCBI Sequence Viewer  
  CAB66496 (Get FASTA)   NCBI Sequence Viewer  
  CAE45891 (Get FASTA)   NCBI Sequence Viewer  
  CAH18344 (Get FASTA)   NCBI Sequence Viewer  
  EAX06521 (Get FASTA)   NCBI Sequence Viewer  
  EAX06522 (Get FASTA)   NCBI Sequence Viewer  
  EAX06523 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000237247
  ENSP00000237247.6
  ENSP00000360076
  ENSP00000360076.3
  ENSP00000360078
  ENSP00000360078.1
  ENSP00000395525
  ENSP00000395525.3
  ENSP00000410439
  ENSP00000410439.2
  ENSP00000506779
  ENSP00000506779.1
  ENSP00000506802
  ENSP00000506802.1
  ENSP00000506830
  ENSP00000506830.1
  ENSP00000506836
  ENSP00000506836.1
  ENSP00000506905.1
  ENSP00000506974.1
  ENSP00000507084.1
  ENSP00000507132.1
  ENSP00000507133.1
  ENSP00000507159
  ENSP00000507159.1
  ENSP00000507164.1
  ENSP00000507231.1
  ENSP00000507264.1
  ENSP00000507298.1
  ENSP00000507311
  ENSP00000507311.1
  ENSP00000507400
  ENSP00000507400.1
  ENSP00000507426.1
  ENSP00000507465.1
  ENSP00000507495
  ENSP00000507495.1
  ENSP00000507515.1
  ENSP00000507528
  ENSP00000507528.1
  ENSP00000507628.1
  ENSP00000507629.1
  ENSP00000507684
  ENSP00000507684.1
  ENSP00000507764.1
  ENSP00000507840.1
  ENSP00000507853.1
  ENSP00000507967
  ENSP00000507967.1
  ENSP00000508028.1
  ENSP00000508116
  ENSP00000508116.1
  ENSP00000508169.1
  ENSP00000508227.1
  ENSP00000508234
  ENSP00000508234.1
GenBank Protein Q9BQI5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_115667   ⟸   NM_032291
- Peptide Label: isoform 1
- UniProtKB: Q6MZY6 (UniProtKB/Swiss-Prot),   Q68D76 (UniProtKB/Swiss-Prot),   Q5VYE4 (UniProtKB/Swiss-Prot),   Q5VYE3 (UniProtKB/Swiss-Prot),   Q5VYE2 (UniProtKB/Swiss-Prot),   Q4LE32 (UniProtKB/Swiss-Prot),   A6NLD1 (UniProtKB/Swiss-Prot),   A6NL81 (UniProtKB/Swiss-Prot),   Q8IWC2 (UniProtKB/Swiss-Prot),   Q9BQI5 (UniProtKB/Swiss-Prot),   A0A804HHZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271327   ⟸   XM_005271270
- Peptide Label: isoform X21
- UniProtKB: B7Z5H8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711024   ⟸   XM_006710961
- Peptide Label: isoform X4
- UniProtKB: A0A804HJS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711034   ⟸   XM_006710971
- Peptide Label: isoform X9
- UniProtKB: A0A804HJI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711036   ⟸   XM_006710973
- Peptide Label: isoform X11
- UniProtKB: A0A804HJI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540593   ⟸   XM_011542291
- Peptide Label: isoform X10
- UniProtKB: A0A804HJI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540594   ⟸   XM_011542292
- Peptide Label: isoform X17
- UniProtKB: A0A804HJI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295132   ⟸   NM_001308203
- Peptide Label: isoform 2
- UniProtKB: A0A804HJI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857997   ⟸   XM_017002508
- Peptide Label: isoform X2
- UniProtKB: A0A804HHZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857995   ⟸   XM_017002506
- Peptide Label: isoform X1
- UniProtKB: A0A804HHZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857999   ⟸   XM_017002510
- Peptide Label: isoform X3
- UniProtKB: A0A804HHZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858005   ⟸   XM_017002516
- Peptide Label: isoform X7
- UniProtKB: A0A804HJJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858013   ⟸   XM_017002524
- Peptide Label: isoform X8
- UniProtKB: A0A804HJI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858017   ⟸   XM_017002528
- Peptide Label: isoform X15
- UniProtKB: B7Z5H8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857996   ⟸   XM_017002507
- Peptide Label: isoform X2
- UniProtKB: A0A804HHZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858018   ⟸   XM_017002529
- Peptide Label: isoform X16
- UniProtKB: A0A804HJI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857994   ⟸   XM_017002505
- Peptide Label: isoform X1
- UniProtKB: A0A804HHZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858004   ⟸   XM_017002515
- Peptide Label: isoform X7
- UniProtKB: A0A804HJJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337146   ⟸   NM_001350217
- Peptide Label: isoform 3
- UniProtKB: A0A804HJS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337147   ⟸   NM_001350218
- Peptide Label: isoform 4
- UniProtKB: B7Z691 (UniProtKB/TrEMBL),   B7Z5H8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001363464   ⟸   NM_001376535
- Peptide Label: isoform 1
- UniProtKB: Q9BQI5 (UniProtKB/Swiss-Prot),   Q6MZY6 (UniProtKB/Swiss-Prot),   Q68D76 (UniProtKB/Swiss-Prot),   Q5VYE4 (UniProtKB/Swiss-Prot),   Q5VYE3 (UniProtKB/Swiss-Prot),   Q5VYE2 (UniProtKB/Swiss-Prot),   Q4LE32 (UniProtKB/Swiss-Prot),   A6NLD1 (UniProtKB/Swiss-Prot),   A6NL81 (UniProtKB/Swiss-Prot),   Q8IWC2 (UniProtKB/Swiss-Prot),   A0A804HHZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363478   ⟸   NM_001376549
- Peptide Label: isoform 12
- UniProtKB: A0A804HHV6 (UniProtKB/TrEMBL),   A0A804HJI3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363471   ⟸   NM_001376542
- Peptide Label: isoform 8
- UniProtKB: A0A804HJJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363463   ⟸   NM_001376534
- Peptide Label: isoform 1
- UniProtKB: Q9BQI5 (UniProtKB/Swiss-Prot),   Q6MZY6 (UniProtKB/Swiss-Prot),   Q68D76 (UniProtKB/Swiss-Prot),   Q5VYE4 (UniProtKB/Swiss-Prot),   Q5VYE3 (UniProtKB/Swiss-Prot),   Q5VYE2 (UniProtKB/Swiss-Prot),   Q4LE32 (UniProtKB/Swiss-Prot),   A6NLD1 (UniProtKB/Swiss-Prot),   A6NL81 (UniProtKB/Swiss-Prot),   Q8IWC2 (UniProtKB/Swiss-Prot),   A0A804HHZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363468   ⟸   NM_001376539
- Peptide Label: isoform 7
- UniProtKB: A0A804HHZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363476   ⟸   NM_001376547
- Peptide Label: isofom 11
- UniProtKB: A0A804HJG4 (UniProtKB/TrEMBL),   A0A804HJI3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363479   ⟸   NM_001376550
- Peptide Label: isoform 13
- UniProtKB: A0A804HJX5 (UniProtKB/TrEMBL),   A0A804HJI3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363470   ⟸   NM_001376541
- Peptide Label: isoform 8
- UniProtKB: A0A804HJJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363474   ⟸   NM_001376545
- Peptide Label: isoform 9
- UniProtKB: A0A804HJJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363480   ⟸   NM_001376551
- Peptide Label: isoform 14
- UniProtKB: B7Z5H8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363483   ⟸   NM_001376554
- Peptide Label: isoform 15
- UniProtKB: A0A804HI01 (UniProtKB/TrEMBL),   B7Z5H8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363467   ⟸   NM_001376538
- Peptide Label: isoform 6
- UniProtKB: A0A804HJS7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363475   ⟸   NM_001376546
- Peptide Label: isoform 10
- UniProtKB: B7Z5H8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363469   ⟸   NM_001376540
- Peptide Label: isoform 7
- UniProtKB: A0A804HHZ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363477   ⟸   NM_001376548
- Peptide Label: isoform 12
- UniProtKB: A0A804HHV6 (UniProtKB/TrEMBL),   A0A804HJI3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363466   ⟸   NM_001376537
- Peptide Label: isoform 5
- UniProtKB: A0A804HJJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363472   ⟸   NM_001376543
- Peptide Label: isoform 8
- UniProtKB: A0A804HJJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363473   ⟸   NM_001376544
- Peptide Label: isoform 9
- UniProtKB: A0A804HJJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363465   ⟸   NM_001376536
- Peptide Label: isoform 2
- UniProtKB: A0A804HJI3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363481   ⟸   NM_001376552
- Peptide Label: isoform 14
- UniProtKB: B7Z5H8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363484   ⟸   NM_001376555
- Peptide Label: isoform 15
- UniProtKB: A0A804HI01 (UniProtKB/TrEMBL),   B7Z5H8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363486   ⟸   NM_001376557
- Peptide Label: isoform 17
- UniProtKB: A0A804HJ90 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363485   ⟸   NM_001376556
- Peptide Label: isoform 16
- UniProtKB: A0A804HIX4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000360076   ⟸   ENST00000371037
RefSeq Acc Id: ENSP00000360078   ⟸   ENST00000371039
RefSeq Acc Id: ENSP00000410439   ⟸   ENST00000424320
RefSeq Acc Id: ENSP00000237247   ⟸   ENST00000237247
RefSeq Acc Id: ENSP00000395525   ⟸   ENST00000435165
RefSeq Acc Id: ENSP00000507400   ⟸   ENST00000683291
RefSeq Acc Id: ENSP00000506974   ⟸   ENST00000683311
RefSeq Acc Id: ENSP00000507528   ⟸   ENST00000683581
RefSeq Acc Id: ENSP00000508028   ⟸   ENST00000683604
RefSeq Acc Id: ENSP00000508169   ⟸   ENST00000682419
RefSeq Acc Id: ENSP00000507164   ⟸   ENST00000684750
RefSeq Acc Id: ENSP00000506830   ⟸   ENST00000683499
RefSeq Acc Id: ENSP00000507264   ⟸   ENST00000682901
RefSeq Acc Id: ENSP00000507515   ⟸   ENST00000682416
RefSeq Acc Id: ENSP00000506802   ⟸   ENST00000684083
RefSeq Acc Id: ENSP00000507465   ⟸   ENST00000682981
RefSeq Acc Id: ENSP00000507132   ⟸   ENST00000683067
RefSeq Acc Id: ENSP00000507840   ⟸   ENST00000683207
RefSeq Acc Id: ENSP00000507628   ⟸   ENST00000682150
RefSeq Acc Id: ENSP00000507298   ⟸   ENST00000682270
RefSeq Acc Id: ENSP00000507967   ⟸   ENST00000683257
RefSeq Acc Id: ENSP00000508116   ⟸   ENST00000682054
RefSeq Acc Id: ENSP00000507311   ⟸   ENST00000684539
RefSeq Acc Id: ENSP00000507853   ⟸   ENST00000682476
RefSeq Acc Id: ENSP00000507495   ⟸   ENST00000684168
RefSeq Acc Id: ENSP00000507426   ⟸   ENST00000682938
RefSeq Acc Id: ENSP00000506779   ⟸   ENST00000682707
RefSeq Acc Id: ENSP00000507684   ⟸   ENST00000681971
RefSeq Acc Id: ENSP00000507159   ⟸   ENST00000684178
RefSeq Acc Id: ENSP00000507084   ⟸   ENST00000682519
RefSeq Acc Id: ENSP00000507629   ⟸   ENST00000684651
RefSeq Acc Id: ENSP00000507231   ⟸   ENST00000682762
RefSeq Acc Id: ENSP00000507133   ⟸   ENST00000684751
RefSeq Acc Id: ENSP00000508234   ⟸   ENST00000684664
RefSeq Acc Id: ENSP00000506836   ⟸   ENST00000682293
RefSeq Acc Id: ENSP00000507764   ⟸   ENST00000682816
RefSeq Acc Id: XP_047288015   ⟸   XM_047432059
- Peptide Label: isoform X19
- UniProtKB: A0A804HJX5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288010   ⟸   XM_047432054
- Peptide Label: isoform X13
- UniProtKB: A0A804HHV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288014   ⟸   XM_047432058
- Peptide Label: isoform X19
- UniProtKB: A0A804HJX5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288011   ⟸   XM_047432055
- Peptide Label: isoform X13
- UniProtKB: A0A804HHV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288008   ⟸   XM_047432052
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047288007   ⟸   XM_047432051
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047288017   ⟸   XM_047432061
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047288009   ⟸   XM_047432053
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047288013   ⟸   XM_047432057
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047288012   ⟸   XM_047432056
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047288016   ⟸   XM_047432060
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054195134   ⟸   XM_054339159
- Peptide Label: isoform X19
- UniProtKB: A0A804HJX5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195127   ⟸   XM_054339152
- Peptide Label: isoform X13
- UniProtKB: A0A804HHV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195137   ⟸   XM_054339162
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054195113   ⟸   XM_054339138
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054195116   ⟸   XM_054339141
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054195122   ⟸   XM_054339147
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054195128   ⟸   XM_054339153
- Peptide Label: isoform X13
- UniProtKB: A0A804HHV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195115   ⟸   XM_054339140
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054195119   ⟸   XM_054339144
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054195118   ⟸   XM_054339143
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054195121   ⟸   XM_054339146
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054195130   ⟸   XM_054339155
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054195138   ⟸   XM_054339163
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054195135   ⟸   XM_054339160
- Peptide Label: isoform X19
- UniProtKB: A0A804HJX5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195117   ⟸   XM_054339142
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054195123   ⟸   XM_054339148
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054195131   ⟸   XM_054339156
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054195125   ⟸   XM_054339150
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054195126   ⟸   XM_054339151
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054195133   ⟸   XM_054339158
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054195112   ⟸   XM_054339137
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054195114   ⟸   XM_054339139
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054195124   ⟸   XM_054339149
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054195132   ⟸   XM_054339157
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054195129   ⟸   XM_054339154
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054195136   ⟸   XM_054339161
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054195120   ⟸   XM_054339145
- Peptide Label: isoform X7
Protein Domains
MHD   Muniscin C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BQI5-F1-model_v2 AlphaFold Q9BQI5 1-828 view protein structure

Promoters
RGD ID:6855812
Promoter ID:EPDNEW_H1071
Type:multiple initiation site
Name:SGIP1_3
Description:SH3 domain GRB2 like endophilin interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1072  EPDNEW_H1073  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,527,449 - 66,527,509EPDNEW
RGD ID:6855814
Promoter ID:EPDNEW_H1072
Type:initiation region
Name:SGIP1_2
Description:SH3 domain GRB2 like endophilin interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1071  EPDNEW_H1073  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,533,593 - 66,533,653EPDNEW
RGD ID:6855816
Promoter ID:EPDNEW_H1073
Type:initiation region
Name:SGIP1_1
Description:SH3 domain GRB2 like endophilin interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1071  EPDNEW_H1072  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38166,534,153 - 66,534,213EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25412 AgrOrtholog
COSMIC SGIP1 COSMIC
Ensembl Genes ENSG00000118473 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000237247 ENTREZGENE
  ENST00000237247.10 UniProtKB/Swiss-Prot
  ENST00000371037 ENTREZGENE
  ENST00000371037.9 UniProtKB/Swiss-Prot
  ENST00000371039 ENTREZGENE
  ENST00000371039.5 UniProtKB/Swiss-Prot
  ENST00000424320 ENTREZGENE
  ENST00000424320.6 UniProtKB/TrEMBL
  ENST00000435165 ENTREZGENE
  ENST00000435165.3 UniProtKB/TrEMBL
  ENST00000480548.6 UniProtKB/TrEMBL
  ENST00000487507.1 UniProtKB/TrEMBL
  ENST00000681971 ENTREZGENE
  ENST00000681971.1 UniProtKB/TrEMBL
  ENST00000682054 ENTREZGENE
  ENST00000682054.1 UniProtKB/TrEMBL
  ENST00000682150.1 UniProtKB/TrEMBL
  ENST00000682270.1 UniProtKB/TrEMBL
  ENST00000682293 ENTREZGENE
  ENST00000682293.1 UniProtKB/TrEMBL
  ENST00000682416.1 UniProtKB/TrEMBL
  ENST00000682419.1 UniProtKB/TrEMBL
  ENST00000682476.1 UniProtKB/TrEMBL
  ENST00000682519.1 UniProtKB/TrEMBL
  ENST00000682707 ENTREZGENE
  ENST00000682707.1 UniProtKB/TrEMBL
  ENST00000682762.1 UniProtKB/TrEMBL
  ENST00000682816.1 UniProtKB/TrEMBL
  ENST00000682901.1 UniProtKB/TrEMBL
  ENST00000682938.1 UniProtKB/TrEMBL
  ENST00000682981.1 UniProtKB/TrEMBL
  ENST00000683067.1 UniProtKB/TrEMBL
  ENST00000683207.1 UniProtKB/TrEMBL
  ENST00000683257 ENTREZGENE
  ENST00000683257.1 UniProtKB/Swiss-Prot
  ENST00000683291 ENTREZGENE
  ENST00000683291.1 UniProtKB/TrEMBL
  ENST00000683311.1 UniProtKB/TrEMBL
  ENST00000683499 ENTREZGENE
  ENST00000683499.1 UniProtKB/TrEMBL
  ENST00000683581 ENTREZGENE
  ENST00000683581.1 UniProtKB/TrEMBL
  ENST00000683604.1 UniProtKB/TrEMBL
  ENST00000684083 ENTREZGENE
  ENST00000684083.1 UniProtKB/TrEMBL
  ENST00000684168 ENTREZGENE
  ENST00000684168.1 UniProtKB/TrEMBL
  ENST00000684178 ENTREZGENE
  ENST00000684178.1 UniProtKB/TrEMBL
  ENST00000684539 ENTREZGENE
  ENST00000684539.1 UniProtKB/Swiss-Prot
  ENST00000684651.1 UniProtKB/TrEMBL
  ENST00000684664 ENTREZGENE
  ENST00000684664.1 UniProtKB/Swiss-Prot
  ENST00000684750.1 UniProtKB/TrEMBL
  ENST00000684751.1 UniProtKB/TrEMBL
Gene3D-CATH Mu homology domain, subdomain B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118473 GTEx
HGNC ID HGNC:25412 ENTREZGENE
Human Proteome Map SGIP1 Human Proteome Map
InterPro AP2_Mu_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Muniscin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SGIP1_MHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84251 UniProtKB/Swiss-Prot
NCBI Gene 84251 ENTREZGENE
OMIM 611540 OMIM
PANTHER PROLINE-SERINE-THREONINE PHOSPHATASE INTERACTING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROLINE-SERINE-THREONINE PHOSPHATASE-INTERACTING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam muHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134909202 PharmGKB
PRINTS PRICHEXTENSN UniProtKB/TrEMBL
PROSITE MHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A804HHV6 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HHX3_HUMAN UniProtKB/TrEMBL
  A0A804HHZ7 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HI01 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HI53_HUMAN UniProtKB/TrEMBL
  A0A804HIA5_HUMAN UniProtKB/TrEMBL
  A0A804HIL8_HUMAN UniProtKB/TrEMBL
  A0A804HIL9_HUMAN UniProtKB/TrEMBL
  A0A804HIP4_HUMAN UniProtKB/TrEMBL
  A0A804HIU6_HUMAN UniProtKB/TrEMBL
  A0A804HIX4 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJ90 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJA8_HUMAN UniProtKB/TrEMBL
  A0A804HJG4 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJI3 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJJ5 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJS7 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJX5 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HK43_HUMAN UniProtKB/TrEMBL
  A0A804HKA0_HUMAN UniProtKB/TrEMBL
  A0A804HKB1_HUMAN UniProtKB/TrEMBL
  A0A804HKQ5_HUMAN UniProtKB/TrEMBL
  A0A804HL75_HUMAN UniProtKB/TrEMBL
  A6NL81 ENTREZGENE
  A6NLD1 ENTREZGENE
  B7Z5H8 ENTREZGENE, UniProtKB/TrEMBL
  B7Z691 ENTREZGENE, UniProtKB/TrEMBL
  F6R8P8_HUMAN UniProtKB/TrEMBL
  Q4LE32 ENTREZGENE
  Q5VYE2 ENTREZGENE
  Q5VYE3 ENTREZGENE
  Q5VYE4 ENTREZGENE
  Q68D76 ENTREZGENE
  Q6MZY6 ENTREZGENE
  Q8IWC2 ENTREZGENE
  Q9BQI5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NL81 UniProtKB/Swiss-Prot
  A6NLD1 UniProtKB/Swiss-Prot
  Q4LE32 UniProtKB/Swiss-Prot
  Q5VYE2 UniProtKB/Swiss-Prot
  Q5VYE3 UniProtKB/Swiss-Prot
  Q5VYE4 UniProtKB/Swiss-Prot
  Q68D76 UniProtKB/Swiss-Prot
  Q6MZY6 UniProtKB/Swiss-Prot
  Q8IWC2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-23 SGIP1  SH3GL interacting endocytic adaptor 1  SGIP1  SH3 domain GRB2 like endophilin interacting protein 1  Symbol and/or name change 5135510 APPROVED
2016-05-24 SGIP1  SH3 domain GRB2 like endophilin interacting protein 1  SGIP1  SH3-domain GRB2-like (endophilin) interacting protein 1  Symbol and/or name change 5135510 APPROVED