AutismKB 2.0

Annotation Detail for OPHN1


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Basic Information Top
Gene Symbol:OPHN1 ( ARHGAP41,MRX60,OPN1 )
Gene Full Name: oligophrenin 1
Band: Xq12
Quick LinksEntrez ID:4983; OMIM: 300127; Uniprot ID:OPHN1_HUMAN; ENSEMBL ID: ENSG00000079482; HGNC ID: 8148
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body1 / 7076114
blastocyst2 / 6231932
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult33 / 193912117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal49 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain24 / 110098921
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver7 / 20774333
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate3 / 18934515
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: Primary tumors (U95A)
  • Affymatrix Probe ID: 39413_at
Cell line Expression level Expression bar
Pr1T25.63
Pr4T8.861
Pr5T7.82
Pr7T8.197
Pr1N8.701
Pr5N8.018
Pr6T10.421
Pr3N8.393
Pr3T8.887
Pr4N8.267
Pr2N7.733
Pr8N8.648
Pr8T9.374
Pr9N8.135
Pr10N8.395
Pr10T8.928
Pr9T7.875
Pr11T8.211
Pr12T8.216
Pr13AT8.888
Pr13BT8.28
Pr21T8.757
Pr22T8.811
Pr30T10.427
Pr23T9.878
Pr19T8.955
Pr26T9.055
Pr31T8.723
Pr16T9.432
Pr17T9.157
Pr24T8.519
Pr27T7.667
Pr29T7.635
OVR1028.479
HUOVR8.086
G210.3
G39.574
G58.795
G68.948
G88.204
G98.838
CO7T10.217
CO8T8.469
CO15T11.232
CO27T9.849
CO30T10.412
CO32T9.316
CO40T9.149
CO52N12.405
CO62N10.6
K18.104
K28.083
K37.029
K49.007
K14N11.458
K169.002
K1711.194
K199.011
K208.941
K228.644
CO9T9.152
CO20T11.379
CO24T10.473
CO36N11.525
K188.207
P1N7.726
P2N9.687
P5N10.278
P88.277
P116.571
P179.117
K219.959
K25N10.431
K28N11.591
CO42T9.83
P227.384
P13N8.212
LU11T9.069
LU16T10.299
LU7T8.728
LU8T8.754
LU12T9.308
LU13T10.167
LU5T10.486
LU6T11.951
LU14T9.47
LU17T10.027
LU50N8.044
LU52N9.631
LU18T9.871
LU55N10.208
LU3N10.739
P16B12.724
P238.622
OVR168.068
OVR198.001
OVR278.375
OVR288.304
OVR278E9.429
OVR28.381
OVR58.428
OVR89.541
OVR119.216
OVR129.133
OVR138.278
OVR2210.019
OVR2610.383
OVR1011.296
OVR278S10.797
OVR18.689
LU19T8.634
LU20T8.953
LU24T9.489
LU25T9.289
LU31T12.314
LU34T10.841
LU39T7.654
CO14T10.115
CO21T11.494
CO23T10.153
CO41N8.822
LU40T11.087
LU41T8.415
LU44T9.273
LU46T9.118
LU49T9.164
L5N9.981
LU42T9.524
LU30T10.023
LU43T12.61
CO5T10.484
CO44T8.664
CO49T9.633
CO51T10.134
CO56T9.078
CO61T8.97
LU26T10.697
LU33T11.539
LU36T8.961
CO43T10.471
G1810.094
G468.486
L11T11.272
L13N10.345
L30T10.619
L31T11.226
L32T11.857
L34T11.414
L35T12.14
B1N11.911
B5N9.156
B8T9.701
B10T9.562
B14T10.99
B16T9.131
B17T9.787
B1NR10.917
B20T12.83
B51NR12.116
B6T13.785
B15T15.137
B21T18.182
B29T9.815
B31T11.541
B32T12.236
B24T9.022
B46T9.45
B34T10.315
B36T9.773
B37T10.465
B38T9.642
B39T8.348
X1029.513
X116_029.466
G2808.16
X468.274
X588.158
G18610.055
G2969.147
L38T9.314
L31T.29.047
L26N10.521
N257ANTR10.03
N285BODY8.764
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P132827
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala9.1 ± 0.27
Basal Forebrain8.92 ± 0.2
Basal Part of Pons8.11 ± 0.09
Cerebellar Cortex8.39 ± 0.12
Cerebellar Nuclei8.08 ± 0.2
Claustrum8.71 ± 0.31
Epithalamus8.69 ± 0.24
Frontal Lobe8.61 ± 0.28
Globus Pallidus8.76 ± 0.22
Hypothalamus8.71 ± 0.2
Insula8.73 ± 0.26
Limbic Lobe8.63 ± 0.34
Mesencephalon8.73 ± 0.3
Myelencephalon8.63 ± 0.34
Occipital Lobe8.76 ± 0.3
Parietal Lobe8.59 ± 0.26
Pontine Tegmentum8.63 ± 0.22
Striatum8.91 ± 0.19
Subthalamus8.3 ± 0.12
Temporal Lobe8.61 ± 0.24
Thalamus8.61 ± 0.27
White Matter7.51 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ophn1CBCerebellum33.56
48.17
Ophn1CTXCerebral cortex89.36
67.6
Ophn1HIPHippocampal region44.93
61.82
Ophn1HPFHippocampal formation60.25
65.44
Ophn1HYHypothalamus51.47
37.31
Ophn1LSXLateral septal complex63.87
48.57
Ophn1MBMidbrain58.59
48
Ophn1MYMedulla50.64
47.84
Ophn1OLFOlfactory bulb92.72
82.85
Ophn1PPons40.64
35.5
Ophn1PALPallidum51.02
40.42
Ophn1RHPRetrohippocampal region94.19
76.85
Ophn1sAMYStriatum-like amygdalar nuclei70.16
50.76
Ophn1STRStriatum71.69
51.69
Ophn1STRdStriatum dorsal region70.75
50.76
Ophn1STRvStriatum ventral region76.12
54.09
Ophn1THThalamus35.9
28.12
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
OPHN1_HUMAN_148 7 148 154 HLHLSSK PRIDE
OPHN1_HUMAN_172 21 172 192 HNFFESSLDYVYQIQEVQESK PRIDE
OPHN1_HUMAN_226 11 226 236 QQLQLSLQNTR PRIDE
OPHN1_HUMAN_262 16 262 277 LPGQPTIEGYLYTQEK PRIDE
OPHN1_HUMAN_393 8 393 400 CINIIETK PRIDE
OPHN1_HUMAN_410 10 410 419 TVGSNIQVQK PRIDE
OPHN1_HUMAN_420 9 420 428 LLNAFFDPK PRIDE
OPHN1_HUMAN_455 10 455 464 NLSEPVMTYR PRIDE
OPHN1_HUMAN_475 7 475 481 SDNLDYR PRIDE
OPHN1_HUMAN_498 8 498 505 EMLELLIR PRIDE
OPHN1_HUMAN_688 13 688 700 ATNGPMPGSGPTK PRIDE
OPHN1_HUMAN_701 7 701 707 TPSFHIK PRIDE
OPHN1_HUMAN_751 29 751 779 AATPQKPEPKPDIVAGNAGEITSSVVASR PRIDE
PAp01429664 10 482 491 LGAIHSLVYK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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